一种新基因EVC2在埃利斯-范克里维尔德综合征中发生突变。
A new gene, EVC2, is mutated in Ellis-van Creveld syndrome.
作者信息
Galdzicka M, Patnala S, Hirshman M G, Cai J-F, Nitowsky H, Egeland J A, Ginns E I
机构信息
Brudnick Neuropsychiatric Research Institute, University of Massachusetts Medical School, Room 107, 303 Belmont Street, Worcester, MA 01604, USA.
出版信息
Mol Genet Metab. 2002 Dec;77(4):291-5. doi: 10.1016/s1096-7192(02)00178-6.
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.
埃利斯-范克里维尔德综合征（EvC；MIM 225500）是一种常染色体隐性遗传性软骨发育不良侏儒症。到目前为止，位于4号染色体p16上的EVC基因突变仅在一小部分受影响个体中导致发病。在本报告中，我们描述了一个新基因EVC2，该基因在一名患有埃利斯-范克里维尔德综合征的阿什肯纳兹个体中发生了突变。我们的研究结果首次证明，在这种疾病中观察到的基因异质性并非仅由单个基因突变所致。
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