Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese:: a unique SLC26A4 mutation spectrum
Molecular analysis of hearing loss associated with enlarged vestibular aqueduct in the mainland Chinese:: a unique SLC26A4 mutation spectrum
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DOI：
10.1007/s10038-007-0139-0
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发表时间：
2007-06-01
影响因子：
3.5
通讯作者：
Xia, Jiahui
中科院分区：
文献类型：
--
作者：
Hu, Hao;Wu, Lingqian;Xia, Jiahui
已经显示，SLC 26 A4基因中的突变涉及以先天性感音神经性听力损伤和甲状腺肿（Pendred综合征）为特征的综合征性耳聋，以及先天性孤立性耳聋（DFNB 4），这两者都与扩大的前庭水管（伊娃）相关。Pendred综合征中SLC 26 A4突变的患病率在许多种族中已明确，但中国大陆耳聋和伊娃患者的数据仍然很差。本研究采用直接测序法对13个无血缘关系的耳聋和伊娃家系的15例患者进行了SLC 26 A4基因的分析。在11个无关家系中共观察到15个致病性突变，其中4个为新突变。其中以IVS 7 -2A > G突变最为常见，占所有突变等位基因的22.3%（5/22），H723 R突变较少见。迄今为止，中国人中共报告了23种突变，其中13种是独特的。结论：伊娃可作为中国大陆听力损失患者SLC 26 A4基因突变的一个放射学标记物，中国人的SLC 26 A4基因突变谱不同于其他报道的人群。
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.