Department of Genetics, Case Western Reserve University, Cleveland, Ohio, USA.
Am J Med Genet A. 2010 Mar;152A(3):674-86. doi: 10.1002/ajmg.a.33323.
CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7. We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals. We also highlight recent genetic and genomic studies that have provided functional insights into CHD7 and the pathogenesis of CHARGE syndrome.
CHARGE 综合征（眼缺损、心脏缺陷、后鼻孔闭锁、生长和/或发育迟缓、生殖器和/或泌尿系统异常、耳部异常（包括耳聋））是一种遗传疾病，其特征是具有特定且可识别的异常模式。编码染色质解旋酶 DNA 结合蛋白 7（CHD7）的基因突变是 CHARGE 综合征的主要原因。在这里，我们回顾了 379 名 CHD7 基因突变阳性或阴性的 CHARGE 患者的临床特征。我们发现，与突变阴性个体相比，CHD7 突变的 CHARGE 个体更常出现眼部缺损、颞骨异常（半规管发育不良/发育不全）和面神经瘫痪。我们还重点介绍了最近的遗传和基因组研究，这些研究为 CHD7 提供了功能见解，并阐明了 CHARGE 综合征的发病机制。
