Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
Mutations in a new member of the chromodomain gene family cause CHARGE syndrome
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DOI：
10.1038/ng1407
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发表时间：
2004-09-01
期刊：
影响因子：
30.8
通讯作者：
van Kessel, AG
中科院分区：
文献类型：
--
作者：
Vissers, LELM;van Ravenswaaij, CMA;van Kessel, AG
CHARGE综合征是一种常见的先天性异常，以一种非随机的方式影响多个组织。我们报道了通过阵列比较基因组杂交在两例CHARGE综合征患者的8q12染色体上发现了2.3 mb的从头重叠微缺失。对位于该区域的基因进行序列分析，发现17例CHARGE综合征患者中有10例CHD7基因突变，无微缺失，这是大多数受影响个体患病的原因。
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.