Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
Mutations in two nonhomologous genes in a head-to-head configuration cause Ellis-van Creveld syndrome
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DOI：
10.1086/368063
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发表时间：
2003-03-01
影响因子：
9.8
通讯作者：
Goodship, JA
中科院分区：
文献类型：
--
作者：
Ruiz-Perez, VL;Tompson, SWJ;Goodship, JA
Ellis-van Creveld综合征（EvC）是一种常染色体隐性遗传性骨骼发育不良。在其他地方，我们描述了这种疾病患者的EVC突变（Ruiz-Perez et al. 2000）。我们现在报告EVC 2的突变也会导致EvC。这两个基因位于一个头对头的配置，是保守的从鱼到人。受影响的个人与EVC和EVC 2的突变具有典型的频谱的功能，是表型上无法区分。
Ellis-van Creveld syndrome (EvC) is an autosomal recessive skeletal dysplasia. Elsewhere, we described mutations in EVC in patients with this condition (Ruiz-Perez et al. 2000). We now report that mutations in EVC2 also cause EvC. These two genes lie in a head-to-head configuration that is conserved from fish to man. Affected individuals with mutations in EVC and EVC2 have the typical spectrum of features and are phenotypically indistinguishable.