Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum

Authors

  • Basmah Alomrani Department of Biological Science, King Abdul-Aziz University, Jeddah, Saudi Arabia.
  • Murid Javed Originelle Fertility Clinic and Women's Health Centre, Ottawa, Canada.
  • Hani S. H. Mohammed Ali Department of Biological Science, King Abdul-Aziz University, Jeddah, Saudi Arabia; Princess Dr. Najla Bent Saud Al-Saud Center for Excellence Research in Biotechnology, King Abdul-Aziz University, Jeddah, Saudi Arabia.
  • Salah E. M. Abo-Aba Department of Biological Science, King Abdul-Aziz University, Jeddah, Saudi Arabia; Princess Dr. Najla Bent Saud Al-Saud Center for Excellence Research in Biotechnology, King Abdul-Aziz University, Jeddah, Saudi Arabia.
  • Albandary AlBakheet Department of Genetics, King Faisal Specialists Hospital and Research Center, Riyadh, Saudi Arabia.
  • Hanan Alqudairy Department of Genetics, King Faisal Specialists Hospital and Research Center, Riyadh, Saudi Arabia.
  • Namik Kaya Department of Genetics, King Faisal Specialists Hospital and Research Center, Riyadh, Saudi Arabia.

DOI:

https://doi.org/10.22317/jcms.v8i1.1167

Keywords:

Central Nervous System, Corpus Callosum, Diagnosis

Abstract

The pathological processes of the central nervous system, intrinsic or extrinsic, occurring during the embryonic period are the most common cause of pregnancy termination. The defects of the neural tube which is primitive form of brain and spinal cord are the most common central nervous system (CNS) malformations. In some defects the fetus continues to develop and results in the birth of a child with sever mental and physical deficiencies. The corpus callosum is the largest white matter tract connecting the two cerebral hemispheres and permits the transfer of information between the two cerebral hemispheres.  Its partial or complete agenesis is caused by abnormalities during embryonic development. The severity of symptoms varies widely depending on the degree of dysgenesis. Hypotonia, visual impairment, seizures, spasticity, motor co-ordination issues, and atypical facial features are common symptoms. In this review we focus on genetic causes, clinical manifestations and diagnosis of various malformations of central nervous system with special emphasis on Corpus Callosum.

References

James Barkovich, in Magnetic Resonance in Epilepsy (Second Edition), 2005. ISBN 978-0-12-431152-7.

Abdel-Salam G M H, Abdel-Hamid M S, Issa, M, Magdy A, El-Kotoury A, Amr K. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. Am. J. Med. Genet. 2012; 158A: 1455-1461.

Acuna-Hidalgo R, Schanze D, Kariminejad A, Nordgren A, Kariminejad M H, Conner P, Grigelioniene G, Nilsson D, Nordenskjöld M, Wedell A, Freyer C, Wredenberg A, Wieczorek D, Gillessen-Kaesbach G, Kayserili H, Elcioglu N, Ghaderi-Sohi S, Goodarzi P, Setayesh H, van de Vorst M, Steehouwer M, Pfundt R, Krabichler B, Curry C, MacKenzie M G , Boycott K M , Gilissen C, Janecke A R, Hoischen A, Zenker M. Neu-Laxova syndrome is a heterogeneous metabolic disorder caused by defects in enzymes of the L-serine biosynthesis pathway. Am J Hum Genet. 2014; 95(3):285-93.

Alby C, Piquand K, Huber C, Megarbané A, Ichkou A, Legendre M, Pelluard F, Encha-Ravazi F, Abi-Tayeh G, Bessières B, El Chehadeh-Djebbar S, Laurent N, Faivre L, Sztriha L, Zombor M, Szabó H, Failler M, Garfa-Traore M, Bole C, Nitschké P, Nizon M, Elkhartoufi N, Clerget-Darpoux F, Munnich A, Lyonnet S, Vekemans M, Saunier S, Cormier-Daire V, Attié-Bitach T, Thomas S. Mutations in KIAA0586 cause lethal ciliopathies ranging from a hydrolethalus phenotype to short-rib polydactyly syndrome. Am J Hum Genet. 2015; 97:311–8.

Alessandri JL, Gordon CT, Jacquemont ML, Gruchy N, Ajeawung NF, Benoist G, Oufadem M, Chebil A, Duffourd Y, Dumont C, Gérard M, Kuentz P, Jouan T, Filippini F, Nguyen TTM, Alibeu O, Bole-Feysot C, Nitschké P, Omarjee A, Ramful D, Randrianaivo H, Doray B, Faivre L, Amiel J, Campeau PM, Thevenon J. Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome. Eur J Hum Genet. 2018; 26:340–9.

Al-Owain M, Al-Hashem A, Al-Muhaizea, M, Humaidan H, Al-Hindi H, Al-Homoud I, Al-Mogarri I. Vici syndrome associated with unilateral lung hypoplasia and myopathy. (Letter) Am. J. Med. Genet. 2010; 152A: 1849-1853.

Amlashi SF, Riffaud L, Brassier G, Morandi X. Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer. 2003; 98:618–24.

Arts HH, Doherty D, van Beersum SE, Parisi MA, Letteboer SJ, Gorden NT, et al. Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat Genet. 2007; 39:882–8.

Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, et al. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. Clin Genet. 2007; 72:454–9.

Auber B, Burfeind P, Herold S, Schoner K, Simson G, Rauskolb R, Rehder H. A disease causing deletion of 29 base pairs in intron 15 in the MKS1 gene is highly associated with the campomelic variant of the Meckel-Gruber syndrome. Clin. Genet. 2007; 72: 454-459.

Baala L, Romano S, Khaddour R, Saunier S, Smith UM, Audollent S, et al. The Meckel-Gruber syndrome gene, MKS3, is mutated in Joubert syndrome. Am J Hum Genet. 2007; 80:186–94.

Baala, L., Audollent, S., Martinovic, J., Ozilou, C., Babron, M.-C., Sivanandamoorthy, S., Saunier, S., Salomon, R., Gonzales, M., Rattenberry, E., Esculpavit, C., Toutain, A., and 23 others. Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome. Am. J. Hum. Genet. 2007; 81: 170-179.

Bachmann-Gagescu R, Dempsey JC, Phelps IG, O'Roak BJ, Knutzen DM, Rue TC, Ishak GE, Isabella CR, Gorden N, Adkins J, Boyle EA, de Lacy N, O'Day D, Alswaid A, Ramadevi A R, Lingappa L, Lourenço C, Martorell L, Garcia-Cazorla À, Ozyürek H, Haliloğlu G, Tuysuz B, Topçu M, Chance P, Parisi MA, Glass IA, Shendure J, Doherty D, et al. Joubert syndrome: a model for untangling recessive disorders with extreme genetic heterogeneity. J Med Genet. 2015a; 52:514–22.

Baek J Y, Jun D Y, Taub D, Kim Y H. Characterization of human phosphoserine aminotransferase involved in the phosphorylated pathway of L-serine biosynthesis. Biochem. J. 2003; 373: 191-200.

Banerjee S, Chen H, Huang H, Wu J, Yang Z, Deng W, Chen D, Deng J, Su Y, Li Y, Wu C, Wang Y, Zeng H, Wang Y, Li X. Novel mutations c.28G>T (p.Ala10Ser) and c.189G>T (p.Glu63Asp) in WDR62 associated with early onset acanthosis and hyperkeratosis in a patient with autosomal recessive microcephaly type 2. Oncotarget. 2016; 7:78363–78371.

Barisic I, Boban L, Loane M, Garne E, Wellesley D, Calzolari E, Dolk H, Addor M-C, Bergman J EH, Braz P, Draper E S, Haeusler M, Khoshnood B, Klungsoyr K, Pierini A, Queisser-Luft A, Rankin J, Rissmann A and Verellen-Dumoulin C. Meckel–Gruber Syndrome: a population-based study on prevalence, prenatal diagnosis, clinical features, and survival in Europe. European Journal of Human Genetics. 2015; 23, 746–752.

Barkovich AJ, Koch TK, Carrol CL. The spectrum of lissencephaly: report of ten patients analyzed by magnetic resonance imaging. Ann Neurol. 1991; 30:139–46.

Bartha-Doering L, Schwartz E, Kollndorfer K, Fischmeister FPS, Novak A, Langs G, Werneck H, Prayer D, Seidl R, Kasprian G. Effect of corpus callosum agenesis on the language network in children and adolescents. Brain Struct Funct. 2021 Apr;226(3):701-713. doi: 10.1007/s00429-020-02203-6. Epub 2021 Jan 26. PMID: 33496825; PMCID: PMC7981296.

Bartsch O, Schmidt S, Richter M, Morlot S, Seemanova E, Wiebe G, Rasi S. DNA sequencing of CREBBP demonstrates mutations in 56% of patients with Rubinstein-Taybi syndrome (RSTS) and in another patient with incomplete RSTS. Hum Genet. 2005; 117:485–93.

Bastaki F, Mohamed M, Nair P, Saif F, Tawfiq N, Aithala G, El-Halik M, Al-AliM, Hamzeh AR. Novel splice-site mutation inWDR62 revealed by whole-exome sequencing in a Sudanese family with primary microcephaly. Congenit Anom. 2016; 56:135–137.

Bergmann, C., Fleigauf, M., Bruchle, N. O., Frank, V., Olbrich, H., Kirschner, J., Schermer, B., Schmedding, I., Kispert, A., Kranzlin, B., Nurnberg, G., Becker, C., and 17 others. Loss of nephrocystin-3 function can cause embryonic lethality, Meckel-Gruber-like syndrome, situs inversus, and renal-hepatic-pancreatic dysplasia. Am. J. Hum. Genet. 2008; 82: 959-970.

Biesecker LG. The Greig cephalopolysyndactyly syndrome. Orphanet J Rare Dis. 2008;3:10.

Bilguvar K, Ozturk A K, Louvi A, Kwan K Y, Choi M, Tatli B, Yalnizoglu D, Tuysuz B, Caglayan A O, Gokben S, Kaymakcalan H, Barak T, and 21 others. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature. 2010; 467: 207-210.

Brady PD, Moerman P, De Catte L, Deprest J, Devriendt K, Vermeesch JR. Exome sequencing identifies a recessive PIGN splice site mutation as a cause of syndromic congenital diaphragmatic hernia. Eur J Med Genet. 2014; 57:487–93.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, D'Arrigo S, Emma F, Fazzi E, Gallizzi R, Gentile M, Loncarevic D, Mejaski-Bosnjak V, Pantaleoni C, Rigoli L, Salpietro CD, Signorini S, Stringini GR, Verloes A, Zabloka D, Dallapiccola B, Gleeson JG, Valente EM, et al. MKS3/TMEM67 mutations are a major cause of COACH Syndrome, a Joubert Syndrome related disorder with liver involvement. Hum Mutat. 2009; 30:E432–42.

Brancati F, Iannicelli M, Travaglini L, Mazzotta A, Bertini E, Boltshauser E, et al. MKS3/TMEM67 mutations are a major cause of COACH syndrome, a Joubert syndrome related disorder with liver involvement. Hum Mutat. 2009; 30:E432–42.

Bruce M.Carlson. Human Embryology and Developmental Biology 6th Edition. Elsevier. 2018: 205-207.

Cantagrel V, Silhavy JL, Bielas SL, Swistun D, Marsh SE, Bertrand JY, Audollent S, Attié-Bitach T, Holden KR, Dobyns WB, Traver D, Al-Gazali L, Ali BR, Lindner TH, Caspary T, Otto EA, Hildebrandt F, Glass IA, Logan CV, Johnson CA, Bennett C, Brancati F, Valente EM, Woods CG, Gleeson JG, et al. Mutations in the cilia gene ARL13B lead to the classical form of Joubert syndrome. Am J Hum Genet. 2008; 83:170–9.

Cardoso C, Leventer RJ, Ward HL, Toyo-Oka K, Chung J, Gross A, Martin CL, Allanson J, Pilz DT, Olney AH, Mutchinick OM, Hirotsune S, Wynshaw-Boris A, Dobyns WB, Ledbetter DH. Refinement of a 400-kb critical region allows genotypic differentiation between isolated lissencephaly, Miller-Dieker syndrome, and other phenotypes secondary to deletions of 17p13.3. Am J Hum Genet. 2003; 72:918–30.

Cariaga-Martínez, A. E., Gutiérrez, K. J. & Alelú-Paz, R. 2018. The vast complexity of the epigenetic landscape during neurodevelopment: an open frame to understanding brain function. International journal of molecular sciences, 19, 1333.

Cervello M, Augello G, Cusimano A, Rita Emma M, Balasus D, Azzolina A, McCubrey J A, Montalto G. Pivotal roles of glycogen synthase-3 in hepatocellular carcinoma. Advances in Biological Regulation. 2017; 65: 59-76

Chen W and Moore M J. Spliceosomes. Current Biology. 2015; 25(5):R182.

Claes, B., Buysschaert, I. & Lambrechts, D. 2010. Pharmaco-epigenomics: discovering therapeutic approaches and biomarkers for cancer therapy. Heredity, 105, 152-160.

Coene KL, Roepman R, Doherty D, Afroze B, Kroes HY, Letteboer SJ, Ngu LH, Budny B, van Wijk E, Gorden NT, Azhimi M, Thauvin-Robinet C, Veltman JA, Boink M, Kleefstra T, Cremers FP, van Bokhoven H, de Brouwer AP. OFD1 is mutated in X-linked Joubert syndrome and interacts with LCA5-encoded lebercilin. Am J Hum Genet. 2009; 85:465–81.

Cullup, T., Kho, A. L., Dionisi-Vici, C., Brandmeier, B., Smith, F., Urry, Z., Simpson, M. A., Yau, S., Bertini, E., McClelland, V., Al-Owain, M., Koelker, S., and 25 others. Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. Nature Genet. 2013; 45: 83-87.

Dafinger C, Liebau M C, Elsayed S M, Hellenbroich Y, Boltshauser E, Korenke G C,8 Fabretti F, Janecke A R, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B and Jörn Bolz H. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011; 121(7):2662-2667.

Dafinger C, Liebau MC, Elsayed SM, Hellenbroich Y, Boltshauser E, Korenke GC, Fabretti F, Janecke AR, Ebermann I, Nürnberg G, Nürnberg P, Zentgraf H, Koerber F, Addicks K, Elsobky E, Benzing T, Schermer B, Bolz HJ. Mutations in KIF7 link Joubert syndrome with Sonic Hedgehog signaling and microtubule dynamics. J Clin Invest. 2011; 121:2662–7.

Dastot-Le Moal F, Wilson M, Mowat D, Collot N, Niel F, Goossens M. ZFHX1B mutations in patients with Mowat-Wilson syndrome. Hum Mutat. 2007; 28:313–21.

Dawe H R, Smith U M, Cullinane A R, Gerrelli D, Cox P, Badano J L, Blair-Reid S, Sriram N, Katsanis N, Attie-Bitach T, Afford S C, Copp A J, Kelly D A, Gull K, Johnson C A. The Meckel-Gruber syndrome proteins MKS1 and meckelin interact and are required for primary cilium formation. Hum. Molec. Genet. 2007; 16: 173-186.

Debeer, P., Peeters, H., Driess, S., De Smet, L., Freese, K., Matthijs, G., Bornholdt, D., Devriendt, K., Grzeschik, K.-H., Fryns, J.-P., Kalff-Suske, M. Variable phenotype in Greig cephalopolysyndactyly syndrome: clinical and radiological findings in 4 independent families and 3 sporadic cases with identified GLI3 mutations. Am. J. Med. Genet. 120A: 49-58, 2003.

del Campo, M., Hall, B. D., Aeby, A., Nassogne, M.-C., Verloes, A., Roche, C., Gonzalez, C., Sanchez, H., Garcia-Alix, A., Cabanas, F., Escudero, R. M., Hernandez, R., Quero, J. Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance. Am. J. Med. Genet. 1999; 85: 479-485.

Delous M, Baala L, Salomon R, Laclef C, Vierkotten J, Tory K, Golzio C, Lacoste T, Besse L, Ozilou C, Moutkine I, Hellman NE, Anselme I, Silbermann F, Vesque C, Gerhardt C, Rattenberry E, Wolf MT, Gubler MC, Martinovic J, Encha-Razavi F, Boddaert N, Gonzales M, Macher MA, Nivet H, Champion G, Berthélémé JP, Niaudet P, McDonald F, Hildebrandt F, Johnson CA, Vekemans M, Antignac C, Rüther U, Schneider-Maunoury S, Attié-Bitach T, Saunier S. The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat Genet. 2007; 39:875–81.

Démurger F, Ichkou A, Mougou-Zerelli S, Le Merrer M, Goudefroye G, Delezoide AL, Quelin C, Manouvrier S, Baujat G, Fradin M, Pasquier L, Megarbane A, Faivre L, Baumann C, Nampoothiri S, Roume J, Isidor B, Lacombe D, Delrue MA, Mercier S, Philip N, Schaefer E, Holder M, Krause A, Laffargue F, Sinico M, Amram D, Andre G, Liquier A, Rossi M, Amiel J, Giuliano F, Boute O, Dieux-Coeslier A, Jacquemont ML, Afenjar A, Van Maldergem L, Lackmy-Port-Lis M, Vincent-Delorme C, Chauvet ML, Cormier-Daire V, Devisme L, Genevieve D, Munnich A, Viot G, Raoul O, Romana S, Gonzales M, Encha-Razavi F, Odent S, Vekemans M, Attie-Bitach T. New insights into genotype-phenotype correlation for GLI3 mutations. Eur J Hum Genet. 2015; 23:92–102.

Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH. Clinical and molecular diagnosis of Miller-Dieker syndrome. Am J Hum Genet. 1991; 48:584–94.

Doherty D, Parisi MA, Finn LS, Gunay-Aygun M, Al-Mateen M, Bates D, Clericuzio C, Demir H, Dorschner M, van Essen AJ, Gahl W, Gentile M, Gorden NT, Hikida A, Knutzen D, Özyurek H, Phelps I, Rosenthal P, Verloes A, Weigand H, Chance PF, Dobyns WB, Glass IA. Mutations in 3 genes (MKS3, RPGRIP1L, and CC2D2A) cause COACH syndrome/Joubert syndrome with congenital hepatic fibrosis. J Med Genet. 2010; 47:8–21.

Dowdle, W. E., Robinson, J. F., Kneist, A., Sirerol-Piquer, M. S., Frints, S. G. M., Corbit, K. C., Zaghloul, N. A., van Lijnschoten, G., Mulders, L., Verver, D. E., Zerres, K., Reed, R. R., Attie-Bitach, T., Johnson, C. A., Garcia-Verdugo, J. M., Katsanis, N., Bergmann, C., Reiter, J. F. Disruption of a ciliary B9 protein complex causes Meckel syndrome. Am. J. Hum. Genet. 89: 94-110, 2011. Note: Erratum: Am. J. Hum. Genet. 2011; 89: 589 only.

Dupré N, Howard HC, Mathieu J, Karpati G, Vanasse M, Bouchard JP, Carpenter S, Rouleau GA. Hereditary motor and sensory neuropathy with agenesis of the corpus callosum. Ann Neurol. 2003; 54:9–18.

Edery, P., Marcaillou, C., Sahbatou, M., Labalme, A., Chastang, J., Touraine, R., Tubacher, E., Senni, F., Bober, M. B., Nampoothiri, S., Jouk, P.-S., Steichen, E., Berland, S., Toutain, A., Wise, C. A., Sanlaville, D., Rousseau, F., Clerget-Darpoux, F., Leutenegger, A.-L. Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA. Science. 2011; 332: 240-243.

Edvardson S, Shaag A, Zenvirt S, Erlich Y, Hannon GJ, Shanske AL, et al. Joubert syndrome 2 (JBTS2) in Ashkenazi Jews is associated with a TMEM216 mutation. Am J Hum Genet. 2010; 86:93–7.

Ehmke, N., Parvaneh, N., Krawitz, P., Ashrafi, M.-R., Karimi, P., Mehdizadeh, M., Kruger, U., Hecht, J., Mundlos, S., Robinson, P. N. First description of a patient with Vici syndrome due to a mutation affecting the penultimate exon of EPG5 and review of the literature. Am. J. Med. Genet. 2014; 164A: 3170-3175.

Elson E, Perveen R, Donnai D, Wall S, Black GC. De novo GLI3 mutation in acrocallosal syndrome: broadening the phenotypic spectrum of GLI3 defects and overlap with murine models. J. Med. Genet. 2002: 39 (11): 804–6.

Embiruçu E K, Martyn M, Schlesinger D, Kok F. Autosomal recessive ataxias: 20 Types, and counting. Arquivos de Neuro-psiquiatria. 2009; 67(4):1143-56

Evans DG, Howard E, Giblin C, Clancy T, Spencer H, Huson SM, Lalloo F. Birth incidence and prevalence of tumor-prone syndromes: estimates from a UK family genetic register service. Am J Med Genet A. 2010; 152A:327–32.

Farach, L. S., Little, M. E., Duker, A. L., Logan, C. V., Jackson, A., Hecht, J. T., Bober, M. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome. Am. J. Med. Genet. 2018; 176A: 465-469.

Farndon PA. Gorlin (naevoid basal cell carcinoma) syndrome. In: Eeles R, Easton DF, Ponder BAJ, Eng C, eds. Genetic Predisposition to Cancer. London, UK: Hodder Arnold; 2004:193-213.

Fenwick AL, Bowdin SC, Klatt RE, Wilkie AO. A deletion of FGFR2 creating a chimeric IIIb/IIIc exon in a child with Apert syndrome. BMC Med Genet. 2011;12:122.

Fergelot P, van Belzen M, van Gils J, Afenjar A, Armour CM, Arveiler B, Beets L, Burglen L, Busa T, Collet M, Deforges J, de Vries BBA, Dominguez Garrido E, Dorison N, Dupont J, Francannet C, Garcia-Minaur S, Gabau Vila E, Gebre-Medhin S, Gener Querol B, Genevieve D, Gerard M, Gervanisi CG, Goldenberg A, Josifova D, Lachlan K, Mas S, Maranda B, Moilanen JS, Nordgren A, Parent P, Rankin J, Reardon W, Rio M, Roume J, Shaw A, Smigiel R, Sojo A, Solomon B, Stembalska A, Stumpel C, Suarez F, Terhal P, Thomas S, Touraine R, Verloes A, Vincent-Delorme C, Wincent J, Peters DJM, Bartsch O, Larizza L, Lacombe D, Hennekam RC. Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused by EP300 mutations. Am J Med Genet A. 2016; 170:3069–82.

Ferrell S, Johnson A, Pearson W. Microcephalic osteodysplastic primordial dwarfism type 1. BMJ Case Rep. 2016. doi:10.1136/bcr-2016-215502.

Finocchi A, Angelino G, Cantarutti N, Corbari M, Bevivino E, Cascioli S, Randisi F, Bertini E, Dionisi-Vici C. Immunodeficiency in Vici syndrome: a heterogeneous phenotype. Am. J. Med. Genet. 2012; 158A: 434-439.

Fontanella B, Russolillo G, Meroni G. MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Hum Mutat. 2008; 29:584–94.

Garavelli L, Ivanovski I, Caraffi SG, Santodirocco D, Pollazzon M, Cordelli DM, Abdalla E, Accorsi P, Adam MP, Baldo C, Bayat A, Belligni E, Bonvicini F, Breckpot J, Callewaert B, Cocchi G, Cuturilo G, Devriendt K, Dinulos MB, Djuric O, Epifanio R, Faravelli F, Formisano D, Giordano L, Grasso M, Grønborg S, Iodice A, Iughetti L, Lacombe D, Maggi M, Malbora B, Mammi I, Moutton S, Møller R, Muschke P, Napoli M, Pantaleoni C, Pascarella R, Pellicciari A, Poch-Olive ML, Raviglione F, Rivieri F, Russo C, Savasta S, Scarano G, Selicorni A, Silengo M, Sorge G, Tarani L, Tone LG, Toutain A, Trimouille A, Valera ET, Vergano SS, Zanotta N, Zollino M, Dobyns WB, Paciorkowski AR. Neuroimaging findings in Mowat-Wilson syndrome: a study of 54 patients. Genet Med. 2017; 19:691–700.

Garavelli L, Mainardi PC. Mowat-Wilson syndrome. Orphanet J Rare Dis. 2007 Oct 24;2:42. doi: 10.1186/1750-1172-2-42. PMID: 17958891; PMCID: PMC2174447.

Gräff, J. & Mansuy, I. M. 2009. Epigenetic dysregulation in cognitive disorders. European Journal of Neuroscience, 30, 1-8.

Groen H, Bouman K, Pierini A, Rankin J, Rissman A, Haeuser M, Yevtushok L, LoaneM, Erwich J, de Walle HEK. Stillbirth and neonatal mortality in ppregnancies complicated by major congenital anomalies: findings from a large European cohort. Prenat Diagn. 2017; 37(11): 1100-1111.

Halbritter J, Bizet AA, Schmidts M, Porath JD, Braun DA, Gee HY, McInerney-Leo AM, Krug P, Filhol E, Davis EE, Airik R, Czarnecki PG, Lehman AM, Trnka P, Nitschké P, Bole-Feysot C, Schueler M, Knebelmann B, Burtey S, Szabó AJ, Tory K, Leo PJ, Gardiner B, McKenzie FA, Zankl A, Brown MA, Hartley JL, Maher ER, Li C, Leroux MR, Scambler PJ, Zhan SH, Jones SJ, Kayserili H, Tuysuz B, Moorani KN, Constantinescu A, Krantz ID, Kaplan BS, Shah JV, Hurd TW, Doherty D, Katsanis N, Duncan EL, Otto EA, Beales PL, Mitchison HM, Saunier S, Hildebrandt F, et al. Defects in the IFT-B component IFT172 cause Jeune and Mainzer-Saldino syndromes in humans. Am J Hum Genet. 2013; 93:915–25.

Hartill V, Szymanska K, Sharif S M, Wheway G and Johnson C A. Meckel–Gruber Syndrome: An Update on Diagnosis, Clinical Management, and Research Advances. Front. Pediatr. 2017; 5 (244):1- 9.

Hayashi, Y. K., Ogawa, M., Tagawa, K., Noguchi, S., Ishihara, T., Nonaka, I., Arahata, K. Selective deficiency of alpha-dystroglycan in Fukuyama-type congenital muscular dystrophy. Neurology. 2001; 57: 115-121.

He, H., Liyanarachchi, S., Akagi, K., Nagy, R., Li, J., Dietrich, R. C., Li, W., Sebastian, N., Wen, B., Xin, B., Singh, J., Yan, P., and 10 others. Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I. Science. 2011; 332: 238-240.

Hofman M A. A biometric analysis of brain size in micrencephalics. J. Neurol. 1984; 231: 87-93.

Hopp, K., Heyer, C. M., Hommerding, C. J., Henke, S. A., Sundsbak, J. L., Patel, S., Patel, P., Consugar, M. B., Czarnecki, P. G., Gliem, T. J., Torres, V. E., Rossetti, S., Harris, P. C. B9D1 is revealed as a novel Meckel syndrome (MKS) gene by targeted exon-enriched next-generation sequencing and deletion analysis. Hum. Molec. Genet. 2011; 20: 2524-2534.

Howard, H. C., Mount, D. B., Rochefort, D., Byun, N., Dupre, N., Lu, J., Fan, X., Song, L., Riviere, J.-B., Prevost, C., Horst, J., Simonati, A., and 12 others. The K-Cl cotransporter KCC3 is mutant in a severe peripheral neuropathy associated with agenesis of the corpus callosum. Nature Genet. 32: 384-392, 2002. Note: Erratum: Nature Genet. 2002; 32: 681 only.

Ibisler A, Hehr U, Barth A, Koch M, Epplen J T, and Hoffjan S. Novel KIF7 Mutation in a Tunisian Boy with Acrocallosal Syndrome: Case Report and Review of the Literature. Mol syndromol. 2015; 6 (4): 173-80.

Ishikawa, Y; Yamamoto, N; Yoshimoto, M; Ito, H (2012). "The primary brain vesicles revisited: are the three primary vesicles (forebrain/midbrain/hindbrain) universal in vertebrates?” Brain, Behavior and Evolution. 79 (2): 75–83.

Ivanovski I, Djuric O, Caraffi SG, Santodirocco D, Pollazzon M, Rosato S, Cordelli DM, et al. Phenotype and genotype of 87 patients with Mowat-Wilson syndrome and recommendations for care. Genet Med. 2018; 20:965–75.

Jaenisch, R. & Bird, A. 2003. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nature genetics, 33, 245-254.

Johnston J J, Sapp J C, Turner J T, Amor D, Aftimos S, Aleck K A, Bocian M, Bodurtha J N, Cox GF, Curry C J, Day R, Donnai D, Field M, Fujiwara I, Gabbett M, Gal M, Graham JM, Hedera P, Hennekam RC, Hersh JH, Hopkin RJ, Kayserili H, Kidd AM, Kimonis V, Lin A E, Lynch S A, Maisenbacher M, Mansour S, McGaughran J, Mehta L, Murphy H, Raygada M, Robin N H, Rope A F, Rosenbaum K N, Schaefer G B, Shealy A, Smith W, Soller M, Sommer A, Stalker H J, Steiner B, Stephan M J, Tilstra D, Tomkins S, Trapane P, Tsai AC, Van Allen M I, Vasudevan PC, Zabel B, Zunich J, Black G C, Biesecker LG. Molecular analysis expands the spectrum of phenotypes associated with GLI3 mutations. Hum Mutat. 2010; 31:1142–54.

Johnston, J. J., Olivos-Glander, I., Killoran, C., Elson, E., Turner, J. T., Peters, K. F., Abbott, M. H., Aughton, D. J., Aylsworth, A. S., Bamshad, M. J., Booth, C., Curry, C. J., and 36 others. Molecular and clinical analyses of Greig cephalopolysyndactyly and Pallister-Hall syndromes: robust phenotype prediction from the type and position of GLI3 mutations. Am. J. Hum. Genet. 2005; 76: 609-622.

Kalff-Suske, M., Wild, A., Topp, J., Wessling, M., Jacobsen, E.-M., Bornholdt, D., Engel, H., Heuer, H., Aalfs, C. M., Ausems, M. G. E. M., Barone, R., Herzog, A., and 11 others. Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome. Hum. Molec. Genet. 8: 1769-1777, 1999.

Kang, S., Graham, J. M., Jr., Olney, A. H., Biesecker, L. G. GLI3 frameshift mutations cause autosomal dominant Pallister-Hall syndrome. Nature Genet. 15: 266-268, 1997.

Kato Z, Morimoto M, Orii KE, Kato T, Kondo N. Developmental changes of radiological findings in Fukuyama-type congenital muscular dystrophy. Pediatr Radiol. 2010; 40:S127–9.

Kim YJ, Byun SY, Jo SA, Shin YB, Cho EH, Lee EY, Hwang SH. Miller-Dieker syndrome with der(17)t(12;17)(q24.33;p13.3)pat presenting with a potential risk of mis-identification as a de novo submicroscopic deletion of 17p13.3. Korean J Lab Med. 2011 Jan;31(1):49-53. doi: 10.3343/kjlm.2011.31.1.49. PMID: 21239872; PMCID: PMC3111033.

Kimonis VE, Mehta SG, Digiovanna JJ, Bale SJ, Pastakia B. Radiological features in 82 patients with nevoid basal cell carcinoma (NBCC or Gorlin) syndrome. Genet Med. 2004; 6:495–502.

Kobayashi K, Kato R, Kondo-Iida E, Taniguchi-Ikeda M, Osawa M, Saito K, Toda T. Deep-intronic variant of fukutin is the most prevalent point mutation of Fukuyama congenital muscular dystrophy in Japan. J Hum Genet. 2017; 62:945–8.

Kobayashi, K., Nakahori, Y., Miyake, M., Matsumura, K., Kondo-Iida, E., Nomura, Y., Segawa, M., Yoshioka, M., Saito, K., Osawa, M., Hamano, K., Sakakihara, Y., Nonaka, I., Nakagome, Y., Kanazawa, I., Nakamura, Y., Tokunaga, K., Toda, T. An ancient retrotransposal insertion causes Fukuyama-type congenital muscular dystrophy. Nature. 1998; 394: 388-392.

Kogerman, P. , Krause, D. , Rahnama, F. , Kogerman, L. , Unden, A. B. , Zaphiropoulos, P. G. , & Toftgård, R.. Alternative first exons of PTCH1 are differentially regulated in vivo and may confer different functions to the PTCH1 protein. Oncogene. 2002; 21, 6007–6016.

Kyttälä M, Tallila J, Salonen R, Kopra O, Kohlschmidt N, Paavola-Sakki P, et al. MKS1, encoding a component of the flagellar apparatus basal body proteome, is mutated in Meckel syndrome. Nat Genet. 2006; 38:155–7.

Lee JE, Silhavy JL, Zaki MS, Schroth J, Bielas SL, Marsh SE, Olvera J, Brancati F, Iannicelli M, Ikegami K, Schlossman AM, Merriman B, Attié-Bitach T, Logan CV, Glass IA, Cluckey A, Louie CM, Lee JH, Raynes HR, Rapin I, Castroviejo IP, Setou M, Barbot C, Boltshauser E, Nelson SF, Hildebrandt F, Johnson CA, Doherty DA, Valente EM, Gleeson JG. CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium. Nat Genet. 2012a; 44:193–9.

Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, et al. Hypomorphic mutations in syndromic encephalocele genes are associated with Bardet-Biedl syndrome. Nat Genet. 2008; 40:443–8.

Levy HL, Lobbregt D, Barnes PD, Poussaint TY. Maternal phenylketonuria: Magnetic resonance imaging of the brain in offspring. J Pediatr. 1996; 128:770–775.

Lim BC, Ki C-S, Kim J-W, Cho A, Kim MJ, Hwang H, Kim KJ, Hwang YS, Park WY, Lim Y-J, Kim IO, Lee JS, Chae JH. Fukutin mutations in congenital muscular dystrophies with defective glycosylation of dystroglycan in Korea. Neuromuscul Disord. 2010; 20:524–30.

Lin AE, Pober BR, Mullen MP, Slavotinek AM. Cardiovascular malformations in Fryns syndrome: is there a pathogenic role for neural crest cells? Am J Med Genet A. 2005; 139:186–93.

Magnani, C., Tedesco, S. A., Dallaglio, S., Sommi, M., Bacchini, E., Vetro, A., Zuffardi, O., Bevilacqua, G. Multiple joint dislocations: an additional skeletal finding in Lowry-Wood syndrome? Am. J. Med. Genet. 2009; 149A: 737-741.

Maillard C, Cavallin M, Piquand K, Philbert M, Bault J P, Millischer A E, Moshous D, Rio M, Gitiaux C, Boddaert N, Masson C, Thomas S, Bahi-Buisson N. Prenatal and postnatal presentations of corpus callosum agenesis with polymicrogyria caused by EGP5 (sic) mutation. Am. J. Med. Genet. 2017; 173A: 706-711.

Majewski F, Stoeckenius M, Kemperdick H. Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles – osteodysplastic primordial dwarfism type III. Am J Med Genet. 1982; 12:37–42.

Manar A L, Asma B. Neu-Laxova syndrome: a new patient with detailed antenatal and post-natal findings. (Letter) Am. J. Med. Genet. 152A: 3193-3196, 2010

Manning M A, Cunniff C M, Colby C E, El-Sayed Y Y, Hoyme H E. Neu-Laxova syndrome: detailed prenatal diagnostic and post-mortem findings and literature review. Am. J. Med. Genet. A. 2004; 125A:240–249.

Mathieu J, Bédard F, Prévost C, Langevin P. Motor and sensory neuropathies with or without agenesis of the corpus callosum: a radiological study of 64 cases. Can J Neurol Sci. 1990; 17:103–8.

Maydan, G., Noyman, I., Har-Zahav, A., Neriah, Z. B., Pasmanik-Chor, M., Yeheskel, A., Albin-Kaplanski, A., Maya, I., Magal, N., Birk, E., Simon, A. J., Halevy, A., Rechavi, G., Shohat, M., Straussberg, R., Basel-Vanagaite, L. Multiple congenital anomalies-hypotonia-seizures syndrome is caused by a mutation in PIGN. J. Med. Genet. 2011; 48: 383-389.

McClelland V, Cullup T, Bodi I, Ruddy D, Buj-Bello A, Biancalana V, Boehm J, Bitoun M, Miller O, Jan W, Menson E, Amaya L, Trounce J, Laporte J, Mohammed S, Sewry C, Raiman J, Jungbluth H. Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy. Am. J. Med. Genet. 2010; 152A: 741-747.

McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome.GeneReviews.2013;https://www.ncbi.nlm.nih.gov/books/NBK1523.

McInerney-Leo AM, Harris JE, Gattas M, Peach EE, Sinnott S, Dudding-Byth T, Rajagopalan S, Barnett CP, Anderson LK, Wheeler L, Brown MA, Leo PJ, Wicking C, Duncan EL. Fryns syndrome associated with recessive mutations in PIGN in two separate families. Hum Mutat. 2016; 37:695–702.

Mehler, M. F. 2008. Epigenetic principles and mechanisms underlying nervous system functions in health and disease. Progress in neurobiology, 86, 305-341.

Moretti, P. & Zoghbi, H. Y. 2006. MeCP2 dysfunction in Rett syndrome and related disorders. Current opinion in genetics & development, 16, 276-281.

Moutard ML, Kieffer V, Feingold J, Lewin F, Baron JM, Adamsbaum C, Gélot A, Isapof A, Kieffer F, de Villemeur TB. Isolated corpus callosum agenesis: a ten-year follow-up after prenatal diagnosis (how are the children without corpus callosum at 10 years of age?). Prenat Diagn. 2012; 32(3):277-83.

Mowat DR, Wilson MJ. Mowat-Wilson syndrome. In: Cassidy SB, Allanson JE, eds. Management of Genetic Syndromes. New York, NY: John Wiley and Sons; 2010:517-29.

Mu He, Radhika Subramanian, Fiona Bangs, Tatiana Omelchenko, Karel F. Liem Jr, Tarun M. Kapoor & Kathryn V. Anderson. The kinesin-4 protein Kif7 regulates mammalian Hedgehog signalling by organizing the cilium tip compartment. Nature Cell Biology. 2014;16: 663–672.

Nagy R, Wang H, Albrecht B, Wieczorek D, Kaesbach G G, Haan Eric, Meinecke P, de la Chapelle A, and Westman J A. Microcephalic Osteodysplastic Primordial Dwarfism type I with biallelic mutations in the RNU4ATAC gene. Clin Genet. 2012; 82(2): 1-12.

Negri G, Milani D, Colapietro P, Forzano F, Della Monica M, Rusconi D, Consonni L, Caffi LG, Finelli P, Scarano G, Magnani C, Selicorni A, Spena S, Larizza L, Gervasini C. Clinical and molecular characterization of Rubinstein-Taybi syndrome patients carrying distinct novel mutations of the EP300 gene. Clin Genet. 2015; 87:148–54.

Nicholas A K, Khurshid M, Desir J, Carvalho O P, Cox J J, Thornton G, Kausar R, Ansar M, Ahmad W, Verloes A, Passemard S, Misson J P, Lindsay S, Gergely F, Dobyns W B, Roberts E, Abramowicz M, Woods C G. WDR62 is associated with the spindle pole and is mutated in human microcephaly. Nature Genet. 2010; 42: 1010-1014.

Ostrovskaya T I, Lazjuk G I. Cerebral abnormalities in the Neu-Laxova syndrome. Am. J. Med. Genet. 1988; 30: 747-756.

Park WJ, Theda C, Maestri NE, Meyers GA, Fryburg JS, Dufresne C, Cohen MM, Jabs EW. Analysis of phenotypic features and FGFR2 mutations in Apert syndrome. Am J Hum Genet. 1995; 57:321–8.

Paul LK, Brown WS, Adolphs R, Tyszka JM, Richards LJ, Mukherjee P, et al. Agenesis of the corpus callosum: Genetic, developmental and functional aspects of connectivity. Nat Rev Neurosci. 2007; 8:287–99.

Peter, C. J., Saito, A., Hasegawa, Y., Tanaka, Y., Nagpal, M., Perez, G., Alway, E., espeso-Gil, S., Fayyad, T. & Ratner, C. 2019. In vivo epigenetic editing of Sema6a promoter reverses transcallosal dysconnectivity caused by C11orf46/Arl14ep risk gene. Nature communications, 10, 1-14.

Peter, C. J., Saito, A., Hasegawa, Y., Tanaka, Y., Perez, G., Alway, E., espeso-gil, S., Fayyad, T., Ratner, C. & Dincer, A. 2018. In vivo epigenetic editing of sema6a promoter reverses impaired transcallosal connectivity caused by C11orf46/ARL14EP neurodevelopmental risk gene. bioRxiv, 491779.

Portela, A. & Esteller, M. 2010. Epigenetic modifications and human disease. Nature biotechnology, 28, 1057.

Rathore E, Rathore AH. Apert Syndrome: Report of a rare congenital malformation. Pak J Med Sci. 2017 May-Jun;33(3):773-775. doi: 10.12669/pjms.333.12878. PMID: 28811814; PMCID: PMC5510146.

Reinders M G, van Hout A F, Cosgun B, and Gille J J. New mutations and an updated database for the patched‐1 (PTCH1) gene. Mol Genet Genomic Med. 2018; 6:409–415.

Roberts E, Jackson A P, Carradice A C, Deeble V J, Mannan J, Rashid Y, Jafri H, McHale D P, Markham A F, Lench N J, Woods C G. The second locus for autosomal recessive primary microcephaly (MCPH2) maps to chromosome 19q13.1-13.2. Europ. J. Hum. Genet. 1999; 7: 815-820.

Romani M, Micalizzi A, Kraoua I, Dotti MT, Cavallin M, Sztriha L, Ruta R, Mancini F, Mazza T, Castellana S, Hanene B, Carluccio MA, Darra F, Máté A, Zimmermann A, Gouider-Khouja N, Valente EM. Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome. Orphanet J Rare Dis. 2014; 9:72.

Rusconi D, Negri G, Colapietro P, Picinelli C, Milani D, Spena S, Magnani C, Silengo MC, Sorasio L, Curtisova V, Cavaliere ML, Prontera P, Stangoni G, Ferrero GB, Biamino E, Fischetto R, Piccione M, Gasparini P, Salviati L, Selicorni A, Finelli P, Larizza L, Gervasini C. Characterization of 14 novel deletions underlying Rubinstein-Taybi syndrome: an update of the CREBBP deletion repertoire. Hum Genet. 2015; 134:613–26.

Sadler TW: Langman’s Medical Embryology, ed 12. Lippincott, Williams & Wilkins, Philadelphia, 2012.

Saito K, Kobayashi M. Fukuyama congenital muscular dystrophy. In: Emery AEH, ed. Muscular Dystrophies. Oxford, UK: Oxford University Press; 2001:39-54.

Salonen R, Norio R. The Meckel syndrome in Finland: epidemiologic and genetic aspects. Am J Med Genet. 1984; 18:691–8.

Salonen R. The Meckel syndrome – clinicopathological findings in 67 patients. Am J Med Genet. 1984; 18:671–89.

Sanders AAWM, de Vrieze E, Alazami AM, Alzahrani F, Malarkey EB, Sorusch N, Tebbe L, Kuhns S, van Dam TJP, Alhashem A, Tabarki B, Lu Q, et al. KIAA0556 is a novel ciliary basal body component mutated in Joubert syndrome. Genome Biol. 2015; 16:293.

Santo S, D’antonio F, Homfray T, Rich P, Pilu G, Bhide A, Thilaganathan B and Papageorghiou A T. Counseling in fetal medicine: agenesis of the corpus callosum. Ultrasound Obstet Gynecol. 2012; 40: 513–521

Saredi S, Ruggieri A, Mottarelli E, Ardissone A, Zanotti S, Farina L, Morandi L, Mora M, Moroni I. Fukutin gene mutations in an Italian patient with early onset muscular dystrophy but no central nervous system involvement. Muscle Nerve. 2009; 39(6):845-8.

Saunders CJ, Zhao W, Ardinger HH. Comprehensive ZEB2 gene analysis for Mowat-Wilson syndrome in a North American cohort: a suggested approach to molecular diagnostics. Am J Med Genet A. 2009; 149A:2527–31.

Schell-Apacik, C. C., Wagner, K., Bihler, M., Ertl-Wagner, B., Heinrich, U., Klopocki, E., Kalscheuer, V. M., Muenke, M., von Voss, H. Agenesis and dysgenesis of the corpus callosum: clinical, genetic and neuroimaging findings in a series of 41 patients. Am. J. Med. Genet. 146A: 2501-2511, 2008.

Schurig V, Bowen P, Harley F, Schiff D. The Meckel syndrome in the Hutterites. Am J Med Genet. 1980; 5:373–81.

Seidahmed, M Z, Abdelbasit O B, and Salih M A. Epidemiology of neural tube defects. Saudi Med J. 2014; 35 (sup 1): S29-S35.

Senocak EU, Oğuz KK, Haliloğlu G, Topçu M, Cila A. Structural abnormalities of the brain other than molar tooth sign in Joubert syndrome-related disorders. Diagn Interv Radiol. 2010; 16:3–6.

Shaheen R, Rahbeeni Z, Alhashem A, Faqeih E, Zhao Q, Xiong Y, Almoisheer A, Al-Qattan S M, Almadani H A, Al-Onazi N, Al-Baqawi B S, Saleh M A, Alkuraya F S. Neu-Laxova syndrome, an inborn error of serine metabolism, is caused by mutations in PHGDH. Am. J. Hum. Genet. 2014; 94: 898-904.

Shaheen R, Schmidts M, Faqeih E, Hashem A, Lausch E, Holder I, Superti-Furga A, Mitchison HM, Almoisheer A, Alamro R, Alshiddi T, Alzahrani F, Beales PL, Alkuraya FS, et al. A founder CEP120 mutation in Jeune asphyxiating thoracic dystrophy expands the role of centriolar proteins in skeletal ciliopathies. Hum Mol Genet. 2015b; 24:1410–9.

Shaheen, R., Ansari, S., Al Mardawi, E., Alshammari, M. J., Alkuraya, F. S. Mutations in TMEM231 cause Meckel-Gruber syndrome. J. Med. Genet. 2013; 50: 160-162.

Shaheen, R., Faqeih, E., Seidahmed, M. Z., Sunker, A., Alali, F. E., AlQahtani, K., Alkuraya, F. S. A TCTN2 mutation defines a novel Meckel Gruber syndrome locus. Hum. Mutat. 2011; 32: 573-578.

Shapiro I, Borochowitz Z, Degani S, Dar H, Ibschitz I, Sharf M. Neu-Laxova syndrome: prenatal ultrasonographic diagnosis, clinical and pathological studies, and new manifestations. Am. J. Med. Genet. 1992; 43: 602-605.

Shelihan, I., Ehresmann, S., Magnani, C., Forzano, F., Baldo, C., Brunetti-Pierri, N., Campeau, P. M. Lowry-Wood syndrome: further evidence of association with RNU4ATAC, and correlation between genotype and phenotype. Hum. Genet. 2018; 137: 905-909.

Shubhankar Mishra, Sunil Kumar Agarwalla, Dnyaneshwar Ramesh Potpalle, and Nishant Nilotpal Dash. Rubenstein-Taybi syndrome with agenesis of corpus callosum. J Pediatr Neurosci. 2015; 10(2): 175–177.

Sicca F, Kelemen A, Genton P, Das S, Mei D, Moro F, Dobyns WB, Guerrini R. Mosaic mutations of the LIS1 gene cause subcortical band heterotopia. Neurology. 2003; 61:1042–6.

Sim Y C, Kim G H, Choi S W, Ahn K M. Novel PTCH1 Gene Mutation in Nevoid Basal Cell Carcinoma Syndrome. J Craniofac Surg. 2018; 29(3):e252-e255.

Slaats GG, Isabella CR, Kroes HY, Dempsey JC, Gremmels H, Monroe GR, Phelps IG, Duran K, Adkins J, Kumar SA, Knutzen DM, Knoers NV, Mendelsohn NJ, Neubauer D, Mastroyianni SD, Vogt J, Worgan L, Karp N, Bowdin S, Glass IA, Parisi MA, Otto EA, Johnson CA, Hildebrandt F, van Haaften G, Giles RH, Doherty D. MKS1 regulates ciliary INPP5E levels in Joubert syndrome. J Med Genet. 2016; 53:62–72.

Smith MJ, Beetz C, Williams SG, Bhaskar SS, O'Sullivan J, Anderson B, Daly SB, Urquhart JE, Bholah Z, Oudit D, Cheesman E, Kelsey A, McCabe MG, Newman WG, Evans DG. Germline mutations in SUFU cause Gorlin syndrome-associated childhood medulloblastoma and redefine the risk associated with PTCH1 mutations. J Clin Oncol. 2014; 32:4155–61.

Smith UM, Consugar M, Tee LJ, McKee BM, Maina EN, Whelan S, et al. The transmembrane protein meckelin (MKS3) is mutated in MeckelGruber syndrome and the wpk rat. Nat Genet. 2006; 38:191–6.

Sowell ER, Mattson SN, Thompson PM, Jernigan TL, Riley EP, Toga AW. Mapping callosal morphology and cognitive correlates. Effects of heavy prenatal alcohol exposure. Neurology. 2001; 57:235–244.

Srour M, Hamdan FF, McKnight D, Davis E, Mandel H, Schwartzentruber J, Martin B, Patry L, Nassif C, Dionne-Laporte A, Ospina LH, Lemyre E, Massicotte C, Laframboise R, Maranda B, Labuda D, Décarie JC, Rypens F, Goldsher D, Fallet-Bianco C, Soucy JF, Laberge AM, Maftei C, Boycott K, Brais B, Boucher RM, Rouleau GA, Katsanis N, Majewski J, Elpeleg O, Kukolich MK, Shalev S, Michaud JL, et al. Joubert Syndrome in French Canadians and Identification of Mutations in CEP104. Am J Hum Genet. 2015; 97:744–53.

Steinlin M, Schmid M, Landau K, Boltshauser E. Follow-up in children with Joubert syndrome. Neuropediatrics. 1997; 28:204–11.

Suzuki T, Miyake N, Tsurusaki Y, Okamoto N, Alkindy A, Inaba A, Sato M, Ito S, Muramatsu K, Kimura S, Ieda D, Saitoh S, Hiyane M, Suzumura H, Yagyu K, Shiraishi H, Nakajima M, Fueki N, Habata Y, Ueda Y, Komatsu Y, Yan K, Shimoda K, Shitara Y, Mizuno S, Ichinomiya K, Sameshima K, Tsuyusaki Y, Kurosawa K, Sakai Y, Haginoya K, Kobayashi Y, Yoshizawa C, Hisano M, Nakashima M, Saitsu H, Takeda S, Matsumoto N. Molecular genetic analysis of 30 families with Joubert syndrome. Clin Genet. 2016; 90:526–35.

Tallila J, Jakkula E, Peltonen L, Salonen R, Kestilä M. Identification of CC2D2A as a Meckel syndrome gene adds an important piece to the ciliopathy puzzle. Am J Hum Genet. 2008; 82:1361–7.

Taniguchi M, Kurahashi H, Noguchi S, Sese J, Okinaga T, Tsukahara T, Guicheney P, Ozono K, Nishino I, Morishita S, Toda T. Expression profiling of muscles from Fukuyama-type congenital muscular dystrophy and laminin-alpha-2 deficient congenital muscular dystrophy; is congenital muscular dystrophy a primary fibrotic disease? Biochem Biophys Res Commun. 2006;342:489–502.

Taybi H, Linder D. Congenital familial dwarfism with cephaloskeletal dysplasia. Radiology. 1967;89:275–281

Teebi AS, Alsaleh QA, Odeh H. Meckel syndrome and neural-tube defects in Kuwait. J Med Genet. 1992; 29:140.

Teebi AS, Teebi SA. Genetic diversity among the Arabs. Community Genet. 2005; 8:21–6.

Thomas S, Wright KJ, Le Corre S, Micalizzi A, Romani M, Abhyankar A, Saada J, Perrault I, Amiel J, Litzler J, Filhol E, Elkhartoufi N, Kwong M, Casanova JL, Boddaert N, Baehr W, Lyonnet S, Munnich A, Burglen L, Chassaing N, Encha-Ravazi F, Vekemans M, Gleeson JG, Valente EM, Jackson PK, Drummond IA, Saunier S, Attié-Bitach T. A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium. Hum Mutat. 2014; 35:137–46.

Tusa RJ, Hove MT. Ocular and oculomotor signs in Joubert syndrome. J Child Neurol. 1999; 14:621–7.

Tuz K, Bachmann-Gagescu R, O'Day DR, Hua K, Isabella CR, Phelps IG, Stolarski AE, O'Roak BJ, Dempsey JC, Lourenco C, Alswaid A, Bönnemann CG, Medne L, Nampoothiri S, Stark Z, Leventer RJ, Topçu M, Cansu A, Jagadeesh S, Done S, Ishak GE, Glass IA, Shendure J, Neuhauss SC, Haldeman-Englert CR, Doherty D, Ferland RJ. Mutations in CSPP1 cause primary cilia abnormalities and Joubert syndrome with or without Jeune asphyxiating thoracic dystrophy. Am J Hum Genet. 2014; 94:62–72.

Valente EM, Logan CV, Mougou-Zerelli S, Lee JH, Silhavy JL, Brancati F, Iannicelli M, Travaglini L, Romani S, Illi B, Adams M, Szymanska K, Mazzotta A, Lee JE, Tolentino JC, Swistun D, Salpietro CD, Fede C, Gabriel S, Russ C, Cibulskis K, Sougnez C, Hildebrandt F, Otto EA, Held S, Diplas BH, Davis EE, Mikula M, Strom CM, Ben-Zeev B, Lev D, Sagie TL, Michelson M, Yaron Y, Krause A, Boltshauser E, Elkhartoufi N, Roume J, Shalev S, Munnich A, Saunier S, Inglehearn C, Saad A, Alkindy A, Thomas S, Vekemans M, Dallapiccola B, Katsanis N, Johnson CA, Attié-Bitach T, Gleeson JG. Mutations in TMEM216 perturb ciliogenesis and cause Joubert, Meckel and related syndromes. Nat Genet. 2010; 42:619–25.

Van Den Boom, J., Wolter, M., Kuick, R., Misek, D. E., Youkilis, A. S., Wechsler, D. S., Sommer, C., Reifenberger, G. & Hanash, S. M. 2003. Characterization of gene expression profiles associated with glioma progression using oligonucleotide-based microarray analysis and real-time reverse transcription-polymerase chain reaction. The American journal of pathology, 163, 1033-1043.

Vasudevan C, McKechnie L, Levene M. Long-termoutcome of antenatally diagnosed agenesis of corpus callosum and cerebellar malformations. Semin Fetal Neonatal. 2012;17:295–300.

Vilboux T, Doherty DA, Glass IA, Parisi MA, Phelps IG, Cullinane AR, Zein W, Brooks BP, Heller T, Soldatos A, Oden NL, Yildirimli D, Vemulapalli M, Mullikin JC, Malicdan MC, Gahl WA, Gunay-Aygun M, et al. Molecular genetic findings and clinical correlations in 100 patients with Joubert syndrome and related disorders prospectively evaluated at a single center. Genet Med. 2017; 19:875–82.

Walsh D M, Shalev S A, Simpson M A, Morgana N V, Gelman-Kohan Z, Chemke J, Trembath R C, Maher E R. Acrocallosal syndrome: Identification of a novel KIF7 mutation and evidence for oligogenic inheritance. European Journal of Medical Genetics. 2013; 56 (1): 39-42.

Wang Y, Wu X, Du L, Zheng J, Deng S, Bi X, Chen Q, Xie H, Férec C, Cooper D N, Luo Y, Fang Q & Chen J-M. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly. Human Genomics 2018; 12(3): 1-8. DOI: 10.1186/s40246-018-0135-9.

Wenger TL, Harr M, Ricciardi S, Bhoj E, Santani A, Adam MP, Barnett SS, Ganetzky R, McDonald-McGinn DM, Battaglia D, Bigoni S, Selicorni A, Sorge G, Monica MD, Mari F, Andreucci E, Romano S, Cocchi G, Savasta S, Malbora B, Marangi G, Garavelli L, Zollino M, Zackai EH. CHARGE-like presentation, craniosynostosis and mild Mowat-Wilson syndrome diagnosed by recognition of the distinctive facial gestalt in a cohort of 28 new cases. Am J Med Genet A. 2014; 164A:2557–66.

Will CL, Lührmann R. "Spliceosome structure and function". Cold Spring Harbor Perspectives in Biology. 2011; 3 (7): a003707. doi:10.1101/cshperspect.a003707.

Yeh HR, Park HK, Kim HJ, Ko TS, Won HS, Lee MY, Shim JY, Yum MS. Brain Dev. Neurodevelopmental outcomes in children with prenatally diagnosed corpus callosal abnormalities. 2018; 40(8):634-641.

Yim, Y. Y., Teague, C. D. & Nestler, E. J. 2020. In vivo locus-specific editing of the neuroepigenome. Nature Reviews Neuroscience, 21, 471-484.

Yoneda M, Fujita T, Yamada Y, Yamada K, Fujii A, Inagaki T, Nakagawa H, Shimada A, Kishikawa M, Nagaya M, Azuma T, Kuriyama M, Wakamatsu N. Late infantile Hirschsprung disease-mental retardation syndrome with a 3-bp deletion in ZFHX1B. Neurology. 2002; 59:1637–40.

Zaqout S, Morris-Rosendahl D, Kaindl AM. Autosomal recessive primary microcephaly (MCPH): an update. Neuropediatrics 2017; 48:135–142.

Zombor M, Kalmár T, Nagy N, Berényi M, Telcs B, Maróti Z, Brandau O, and Sztriha L. A novel WDR62 missense mutation in microcephaly with abnormal cortical architecture and review of the literature. Journal of Applied Genetics. 2019; https://doi.org/10.1007/s13353-019-00486-y.

Zweier C, Horn D, Kraus C, Rauch A. Atypical ZFHX1B mutation associated with a mild Mowat-Wilson syndrome phenotype. Am J Med Genet A. 2006; 140:869–72.

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Published

2022-02-26

How to Cite

Alomrani, B. ., Javed, M. ., Mohammed Ali , H. S. H. ., Abo-Aba, S. E. M. ., AlBakheet, A. ., Alqudairy, H. ., & Kaya, N. . (2022). Genetic Causes, Clinical Manifestations and Diagnosis of Central Nervous System Malformations with Emphasis on Corpus Callosum. Journal of Contemporary Medical Sciences, 8(1), 1–17. https://doi.org/10.22317/jcms.v8i1.1167

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