| H00936 | |
| H number | H00936 |
| Name | Goldberg-Shprintzen megacolon syndrome; Goldberg-Shprintzen syndrome (GOSHS) |
| Description | Goldberg-Shprintzen megacolon syndrome is a rare disorder caused by inactivating mutations in the kinesin binding protein (KBP) and is characterized by central and enteric nervous system defects. Clinical features of this syndrome include polymicrogyria, mild mental retardation, microcephaly, facial dysmorphisms, and short-segment Hirschsprung disease. The precise function of KBP is largely unclear, but it is required for cell differentiation and neurite development. |
| Category | Congenital malformation |
| Network | - |
| Gene | KBP [HSA:26128] [KO:K23845] |
| Pathogen | - |
| Env factor | - |
| Carcinogen | - |
| Drug | - |
| Comment | For Hirschsprung disease, see H00910. |
| Other DBs | ICD-11: LD2F.1Y ICD-10: Q87.8 MeSH: C537279 OMIM: 609460 |
| Reference | PMID:15883926 AUTHORS Brooks AS, Bertoli-Avella AM, Burzynski GM, Breedveld GJ, Osinga J, Boven LG, Hurst JA, Mancini GM, Lequin MH, de Coo RF, Matera I, de Graaff E, Meijers C, Willems PJ, Tibboel D, Oostra BA, Hofstra RM TITLE Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. JOURNAL Am J Hum Genet 77:120-6 (2005) DOI:10.1086/431244 PMID:20621975 AUTHORS Alves MM, Burzynski G, Delalande JM, Osinga J, van der Goot A, Dolga AM, de Graaff E, Brooks AS, Metzger M, Eisel UL, Shepherd I, Eggen BJ, Hofstra RM TITLE KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. JOURNAL Hum Mol Genet 19:3642-51 (2010) DOI:10.1093/hmg/ddq280 PMID:18192286 AUTHORS Lyons DA, Naylor SG, Mercurio S, Dominguez C, Talbot WS TITLE KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome. JOURNAL Development 135:599-608 (2008) DOI:10.1242/dev.012377 PMID:9571278 AUTHORS Fryer AE TITLE Goldberg-Shprintzen syndrome: report of a new family and review of the literature. JOURNAL Clin Dysmorphol 7:97-101 (1998) DOI:10.1097/00019605-199804000-00003 |