Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness
Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness
复制标题
七个维吾尔族非综合征性耳聋近亲家庭的突变分析
DOI：
10.1016/j.ijporl.2014.06.023
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发表时间：
2014-09-01
影响因子：
1.5
通讯作者：
Wu, Hao
中科院分区：
文献类型：
--
作者：
Wang, Zhen-tao;Chen, Ying;Wu, Hao
目的：为探讨维吾尔族非综合征性耳聋家系的遗传原因，对7个维吾尔族非综合征性耳聋家系进行了听力表型分析。结果：在3个家系中均检测到SLC 26 A4的p.N392Y/p.N392Y、p.S57X/p.S57X和p.Q413R/p.L676Q双等位基因突变，这3个家系均为耳聋的致病基因。GJB 2和MT-RNR 1未发现突变。结论：SLC 26 A4突变是维吾尔族近亲耳聋家族最常见的病因。(C)2014爱思唯尔爱尔兰有限公司版权所有。
Objective: To investigate the genetic causes of consanguineous Uyghur families with nonsyndromic deafness.Method: Seven consanguineous Uyghur families with nonsyndromic deafness were recruited in this study and characterized for their audiometric phenotype. Mutation analysis of common deafness genes GJB2, SLC26A4 and MT-RNR1 was performed in all families by direct sequencing.Result: Bi-allelic mutations in SLC26A4, including p.N392Y/p.N392Y, p.S57X/p.S57X and p.Q413R/p.L676Q were detected in three families as the pathogenic causes for the deafness. No mutations were identified in GJB2 and MT-RNR1.Conclusion: Mutations in SLC26A4 was the most common causes of the Uyghur consanguineous deaf families. (C) 2014 Elsevier Ireland Ltd. All rights reserved.