X-linked dominant chondrodysplasia punctata (CDPX2) caused by single gene mosaicism in a male

被引：38

作者：

Aughton, DJ

Kelley, RI

Metzenberg, A

Pureza, V

Pauli, RM

机构：

[1] William Beaumont Hosp, Dept Pediat, Div Genet, Royal Oak, MI 48072 USA

[2] Johns Hopkins Univ, Sch Med, Kennedy Krieger Inst, Baltimore, MD USA

[3] Johns Hopkins Univ, Sch Med, Dept Pediat, Baltimore, MD 21205 USA

[4] Johns Hopkins Univ, Sch Med, Dept Neurol, Baltimore, MD 21205 USA

[5] Calif State Univ Northridge, Dept Biol, Northridge, CA 91330 USA

[6] Univ Wisconsin, Dept Pediat, Madison, WI USA

[7] Univ Wisconsin, Dept Med Genet, Madison, WI 53706 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2003年 / 116A卷 / 03期

关键词：

stippled epiphyses; sterol-Delta(8)-Delta(7) isomerase; Happle syndrome; Conradi-Hunermann syndrome; bone dysplasia;

D O I：

10.1002/ajmg.a.10852

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

X-linked dominant chondrodysplasia punctata (CDPX2; Happle syndrome) is recognized almost exclusively in females, who display mosaic and asymmetric features, presumed to arise secondary to random X-inactivation. CDPX2 results from mutation of an X-linked gene coding for sterol-Delta(8)-Delta(7) isomerase (emopamil binding protein). We describe a boy with clinical features of CDPX2 (including those presumed to arise usually secondary to functional mosaicism in females). Biochemical and molecular studies demonstrate that he is mosaic for a sterol-Delta(8)-Delta(7) isomerase gene mutation. He is the first reported example of single gene mosaicism. giving rise to CDPX2 in a male. (C) 2002 Wiley-Liss, Inc.

引用

页码：255 / 260

页数：6

共 29 条

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