A new gene, EVC2, is mutated in Ellis-van Creveld syndrome
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome
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DOI：
10.1016/s1096-7192(02)00178-6
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发表时间：
2002-12-01
影响因子：
3.8
通讯作者：
Ginns, EI
中科院分区：
文献类型：
--
作者：
Galdzicka, M;Patnala, S;Ginns, EI
Ellis-van Creveld综合征（EvC; MIM 225500）是一种常染色体隐性遗传性软骨发育不良性侏儒症。到目前为止，位于染色体4p 16上的EVC基因中鉴定出的突变仅在一小部分受影响的个体中引起疾病。在这份报告中，我们描述了一个新的基因，EVC 2，这是在一个德系犹太人与EvC综合征个体突变。我们的研究结果首次表明，在这种疾病中观察到的异质性不仅仅是单个基因突变的结果。(C)2002 Elsevier Science（美国）。All rights reserved.
Ellis-van Creveld syndrome (EvC; MIM 225500) is an autosomal recessive chondrodysplastic dwarfism. Thus far, the identified mutations in the EVC gene located on chromosome 4p16 have only accounted for illness in a small proportion of affected individuals. In this report we describe a novel gene, EVC2, that is mutated in an Ashkenazi individual with EvC syndrome. Our findings demonstrate for the first time that the heterogeneity observed in this disorder is not solely the result of mutations in a single gene. (C) 2002 Elsevier Science (USA). All rights reserved.