CHARGE syndrome: an update
CHARGE syndrome: an update
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DOI：
10.1038/sj.ejhg.5201778
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发表时间：
2007-04-01
影响因子：
5.2
通讯作者：
Verloes, Alain
中科院分区：
文献类型：
--
作者：
Sanlaville, Damien;Verloes, Alain
CHARGE综合征是一种罕见的，通常是散发性的常染色体显性遗传病，2/3的病例是由于CHD 7基因突变引起的。临床定义随着时间的推移而演变。3C三联征（缺损-后鼻孔闭锁-半规管异常）、无脑畸形和菱形脑功能障碍现在被认为是诊断的最重要和最恒定的线索。我们将在这里讨论最近的CHARGE综合征的表型描绘方面，并强调CHD 7在其病因中的作用。我们回顾了其分子病理学以及CHARGE综合征遗传异质性的细胞遗传学和分子证据的现有数据。
CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (Coloboma-Choanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the phenotypic delineation of CHARGE syndrome and highlight the role of CHD7 in its pathogeny. We review available data on its molecular pathology as well as cytogenetic and molecular evidences for genetic heterogeneity within CHARGE syndrome.