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.
Lyons DA, Naylor SG, Mercurio S, Dominguez C, Talbot WS
タイトル
KBP is essential for axonal structure, outgrowth and maintenance in zebrafish, providing insight into the cellular basis of Goldberg-Shprintzen syndrome.
