KEGG DISEASE: Goldberg-Shprintzen megacolon syndrome

KEGG

DISEASE: Goldberg-Shprintzen megacolon syndrome

Entry

H00936                      Disease

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

Brite

Human diseases in ICD-11 classification [BR:br08403]
20 Developmental anomalies
  Multiple developmental anomalies or syndromes
   LD2F  Syndromes with multiple structural anomalies, without predominant body system involvement
    H00936  Goldberg-Shprintzen megacolon syndrome

Gene

KBP [HSA:26128] [KO:K23845]

Comment

For Hirschsprung disease, see H00910.

Other DBs

ICD-11:

MeSH:

OMIM:

Reference

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

Reference

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

Reference

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

Reference

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

LinkDB

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