Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
Mutations in SIP1, encoding Smad interacting protein-1, cause a form of Hirschsprung disease
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DOI：
10.1038/86860
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发表时间：
2001-04-01
期刊：
影响因子：
30.8
通讯作者：
Nagaya, M
中科院分区：
文献类型：
--
作者：
Wakamatsu, N;Yamada, Y;Nagaya, M
巨结肠病（HSCR）有时与一系列特征相关，包括智力迟钝、小头畸形和明显的面部特征（1-3），但在这种情况下突变的基因尚未被确定。在这里，我们报道了编码Smad相互作用蛋白-1的SIP1突变在一系列病例中引起疾病。SIP1位于新生t(2;13)（q22;q22）易位患者的2q22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。
Hirschsprung disease (HSCR) is sometimes associated with a set of characteristics including mental retardation, microcephaly, and distinct facial features(1-3), 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.