Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss

查看全文 作　　者：Jianzhong [1,2]Li;Jing [1]Cheng;Yanping [3]Lu;Yu [1]Lu;Airing [1]Chen;[1]YiSun;Dongyang [1]Kang;Xin [1]Zhang;Pu [1]Dai;Dongyi [1]Han;Huijun [1]Yuan

机构地区：[1]Institute of Otolaryngology, Chinese PLA General Hospital, Beijing 100853, China;[2]Department of Otolaryngology, Fuzhou General Hospital of Nanjing Command PLA, Fuzhou 350025, China;[3]Department of Obstetrics and Gynecology General Hospital of PLA, Beijing 100853, China

出　　处：《Journal of Genetics and Genomics》索引2010年第37卷第12期,共7页

基　　金：supported by the funding from the National High Technology Research and Development Program of China (863 Program) to Huijun Yuan (No.2007AA02E466);Key Project of National Natural Science Foundation of China to Huijun Yuan (Nos.81030017, 30571018) and Xuezhong Liu (No. 30528025) 摘　　要：We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation (c.647G→A) in the POU3F4 gene caused a substitu- tion from glycine to glutamic acid at position 216 (p.G216E), and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the c.647G→A muta- tion in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families. 关键词：DNA突变产前诊断综合征家庭耳聋连锁小说鉴定

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Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss

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