Goldberg-Shprintzen-Syndrom ist eine autosomal rezessive Erkrankung, die durch Mutationen des KIF1BP-Gens hervorgerufen wird. Das Syndrom ist durch verschiedene Anomalien gekennzeichnet, so Mikrozephalie, geistige Retardierung Gesichtsdysmorphien. Zu den Dysmorphien innerer Organe gehören eine Megacolon und verschiedene urogenitale Fehlbildungen.
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Brooks AS et al. (2005) Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. |
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Drévillon L et al. (2013) KBP-cytoskeleton interactions underlie developmental anomalies in Goldberg-Shprintzen syndrome. |
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Valence S et al. (2013) Homozygous truncating mutation of the KBP gene, encoding a KIF1B-binding protein, in a familial case of fetal polymicrogyria. |
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Yomo A et al. (1991) Goldberg-Shprintzen syndrome: Hirschsprung disease, hypotonia, and ptosis in sibs. |
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Halal F et al. (1990) The syndrome of Hirschsprung disease, microcephaly, unusual face, and mental retardation. |
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Hurst JA et al. (1988) Unknown syndrome: Hirschsprung's disease, microcephaly, and iris coloboma: a new syndrome of defective neuronal migration. |
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Goldberg RB et al. (1981) Hirschsprung megacolon and cleft palate in two sibs. |
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Brooks AS et al. (1999) A consanguineous family with Hirschsprung disease, microcephaly, and mental retardation (Goldberg-Shprintzen syndrome). |
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Silengo M et al. (2003) Pachygyria and cerebellar hypoplasia in Goldberg-Shprintzen syndrome. |
10. |
Murphy HR et al. (2006) Two brothers with Goldberg-Shprintzen syndrome. |
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OMIM.ORG article Omim 609460 |
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Orphanet article Orphanet ID 66629 |