Mutations in a new member of the chromodomain gene family cause CHARGE syndrome

被引：876

作者：

Vissers, LELM

van Ravenswaaij, CMA

Admiraal, R

Hurst, JA

de Vries, BBA

Janssen, IM

van der Vliet, WA

Huys, EHLPG

de Jong, PJ

Hamel, BCJ

Schoenmakers, EFPM

Brunner, HG

Veltman, JA

van Kessel, AG

机构：

[1] Univ Med Ctr Nijmegen, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands

[2] Univ Med Ctr Nijmegen, Dept Otorhinolaryngol, NL-6500 HB Nijmegen, Netherlands

[3] Churchill Hosp, Dept Clin Genet, Oxford OX3 7LJ, England

[4] Childrens Hosp, Oakland Res Inst, BACPAC Resources, Oakland, CA 94609 USA

来源：

NATURE GENETICS | 2004年 / 36卷 / 09期

关键词：

D O I：

10.1038/ng1407

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

CHARGE syndrome is a common cause of congenital anomalies affecting several tissues in a nonrandom fashion. We report a 2.3-Mb de novo overlapping microdeletion on chromosome 8q12 identified by array comparative genomic hybridization in two individuals with CHARGE syndrome. Sequence analysis of genes located in this region detected mutations in the gene CHD7 in 10 of 17 individuals with CHARGE syndrome without microdeletions, accounting for the disease in most affected individuals.

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页码：955 / 957

页数：3

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