CHARGE syndrome is an autosomal-dominant, multiple congenital anomaly condition characterized by vision and hearing loss, congenital heart disease, and malformations of craniofacial and other structures. Pathogenic variants in CHD7, encoding adenosine triphosphate-dependent chromodomain helicase DNA binding protein 7, are present in the majority of affected individuals. However, no causal variant can be found in 5-30% (depending on the cohort) of individuals with a clinical diagnosis of CHARGE syndrome.

中文翻译：

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CHARGE 综合征的遗传分析确定了重叠的分子生物学。

CHARGE 综合征是一种常染色体显性遗传的多发性先天性异常疾病，其特征是视力和听力丧失、先天性心脏病以及颅面和其他结构的畸形。CHD7 中的致病性变异，编码三磷酸腺苷依赖性染色质域解旋酶 DNA 结合蛋白 7，存在于大多数受影响的个体中。然而，在 5-30%（取决于队列）临床诊断为 CHARGE 综合征的个体中没有发现因果变异。