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Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease.

Authors: Wakamatsu, N  Yamada, Y  Yamada, K  Ono, T  Nomura, N  Taniguchi, H  Kitoh, H  Mutoh, N  Yamanaka, T  Mushiake, K  Kato, K  Sonta, S  Nagaya, M 
Citation: Wakamatsu N, etal., Nat Genet. 2001 Apr;27(4):369-70.
Pubmed: (View Article at PubMed) PMID:11279515
DOI: Full-text: DOI:10.1038/86860

Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features, but the gene mutated in this condition has not yet been identified. Here we report that mutations in SIP1, encoding Smad interacting protein-1, cause disease in a series of cases. SIP1 is located in the deleted segment at 2q22 from a patient with a de novo t(2;13)(q22;q22) translocation. SIP1 seems to have crucial roles in normal embryonic neural and neural crest development.

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CRRD Object Information
CRRD ID: 1599885
Created: 2007-02-20
Species: All species
Last Modified: 2007-02-20
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.