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
Department of Genetics, Central Hospital, Aichi Human Service Center, Kasugai, Aichi, Japan.
Nat Genet. 2001 Apr;27(4):369-70. 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.
先天性巨结肠症（HSCR）有时与一系列特征相关，包括智力迟钝、小头畸形和独特的面部特征，但导致这种病症的突变基因尚未被确定。在此我们报告，编码Smad相互作用蛋白1的SIP1基因发生突变在一系列病例中导致了该病。SIP1位于一名患有新发t(2;13)(q22;q22)易位的患者2q22的缺失片段中。SIP1似乎在正常胚胎神经和神经嵴发育中起关键作用。
