伴有CHD7突变的CHARGE综合征的表型谱。
Phenotypic spectrum of CHARGE syndrome with CHD7 mutations.
作者信息
Aramaki Michihiko, Udaka Toru, Kosaki Rika, Makita Yoshio, Okamoto Nobuhiko, Yoshihashi Hiroshi, Oki Hirotaka, Nanao Kenji, Moriyama Nobuko, Oku Shozo, Hasegawa Tomonobu, Takahashi Takao, Fukushima Yoshimitsu, Kawame Hiroshi, Kosaki Kenjiro
机构信息
Department of Pediatrics, Keio University School of Medicine, Tokyo, Japan.
出版信息
J Pediatr. 2006 Mar;148(3):410-4. doi: 10.1016/j.jpeds.2005.10.044.
CHD7 gene mutations were identified in 17 (71%) of 24 children clinically diagnosed to have CHARGE syndrome (C, coloboma of the iris or retina; H, heart defects; A, atresia of the choanae; R, retardation of growth and/or development; G, genital anomalies; and E, ear abnormalities). Colobomata, hearing loss, laryngomalacia, and vestibulo-cochlear defect were prevalent. Molecular testing for CHD7 enables an accurate diagnosis and provides health anticipatory guidance and genetic counseling to families with CHARGE syndrome.
在临床诊断为CHARGE综合征（C，虹膜或视网膜缺损；H，心脏缺陷；A，后鼻孔闭锁；R，生长和/或发育迟缓；G，生殖器异常；E，耳部异常）的24名儿童中，有17名（71%）检测出CHD7基因突变。缺损、听力丧失、喉软化和前庭蜗神经缺陷很常见。CHD7的分子检测能够实现准确诊断，并为患有CHARGE综合征的家庭提供健康预期指导和遗传咨询。
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