Identification of a novel mutation in 3β-hydroxysteroid-Δ8-Δ7-isomerase in a case of Conradi-Hunermann-Happle syndrome

被引：14

作者：

Becker, K ^{[1
]}

Csikós, M ^{[1
]}

Horváth, A ^{[1
]}

Kárpáti, S ^{[1
]}

机构：

[1] Semmelweis Univ, Dept Dermatol, H-1085 Budapest, Hungary

来源：

EXPERIMENTAL DERMATOLOGY | 2001年 / 10卷 / 04期

关键词：

X-dominant chondrodysplasia punctata; emopamil-binding protein; mutation-analysis;

D O I：

10.1034/j.1600-0625.2001.100409.x

中图分类号：

R75 [皮肤病学与性病学];

学科分类号：

100206 ;

摘要：

The X-linked dominant Conradi-Hunermann-Happle (CDPX2, MIM 302960) syndrome belongs to the rare, heterogeneous group of diseases called chondrodysplasia punctata. The disease has been connected recently with deficiency of 3 beta -hydroxysteroid-Delta8-Delta7-isomerase (also called emopamil-binding protein, EBP), catalysing an intermediate step in the conversion of lanosterol to cholesterol (1, 2). We report a case of CDPX2 with a new missense mutation (C-->G 439) in exon 4, leading to a R147G aminoacid substitution in the EBP.

引用

页码：286 / 289

页数：4

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