Hu Hao, Wu Lingqian, Feng Yong, Pan Qian, Long Zhigao, Li Juan, Dai Heping, Xia Kun, Liang Desheng, Niikawa Norio, Xia Jiahui
National Laboratory of Medical Genetics, Xiangya Hospital, Central South University, 110 Xiangya Road, Changsha, Hunan, 410078, China.
Department of Human Genetics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan.
J Hum Genet. 2007;52(6):492-497. doi: 10.1007/s10038-007-0139-0. Epub 2007 Apr 19.
It has been shown that mutations in the SLC26A4 gene are involved in syndromic deafness characterized by congenital sensorineural hearing impairment and goitre (Pendred's syndrome), as well as in congenital isolated deafness (DFNB4), both of which are associated with enlarged vestibular aqueduct (EVA). The prevalence of SLC26A4 mutations in Pendred's syndrome is clearly established in many ethnic groups, but the data from Mainland Chinese patients with deafness and EVA remain poor. In this report, 15 patients from 13 unrelated Chinese families with deafness and EVA were analyzed for SLC26A4 using direct sequencing. A total of 15 pathogenic mutations were observed in 11 unrelated families, 4 of which were novel. One mutation, IVS7-2A>G, was most common, accounting for 22.3% (5/22) of all the mutant alleles, and H723R was infrequent. To date, a total of 23 mutations have been reported among the Chinese, 13 of which were unique. In conclusion, EVA could be a radiological marker for SLC26A4 analysis among Mainland Chinese hearing-loss patients, and the SLC26A4 mutation spectrum in the Chinese was different from other reported populations.
研究表明，SLC26A4基因突变与以先天性感音神经性听力障碍和甲状腺肿为特征的综合征性耳聋（彭德莱德综合征）以及先天性孤立性耳聋（DFNB4）有关，这两种疾病均与前庭导水管扩大（EVA）相关。在许多种族中，彭德莱德综合征中SLC26A4基因突变的患病率已明确确定，但中国大陆耳聋和EVA患者的数据仍然匮乏。在本报告中，对来自13个不相关的中国耳聋和EVA家庭的15名患者进行了SLC26A4基因的直接测序分析。在11个不相关的家庭中总共观察到15个致病突变，其中4个是新发现的。一个突变IVS7-2A>G最为常见，占所有突变等位基因的22.3%（5/22），而H723R则较少见。迄今为止，中国人中总共报告了23个突变，其中13个是独特的。总之，EVA可能是中国大陆听力损失患者中SLC26A4分析的一个影像学标志物，中国人的SLC26A4突变谱与其他已报道人群不同。
