Goldberg-Shprintzen megacolon syndrome

Definition:

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.

References:

[1]. A E Fryer, et al. Goldberg-Shprintzen syndrome: report of a new family and review of the literature. Clin Dysmorphol. 1998 Apr;7(2):97-101. [Content Brief]

[2]. Alice S Brooks, et al. Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. Am J Hum Genet. 2005 Jul;77(1):120-6. [Content Brief]

[3]. David A Lyons, et al. KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome. Development. 2008 Feb;135(3):599-608. [Content Brief]

[4]. Maria M Alves, et al. KBP interacts with SCG10, linking Goldberg-Shprintzen syndrome to microtubule dynamics and neuronal differentiation. Hum Mol Genet. 2010 Sep 15;19(18):3642-51. [Content Brief]

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