对七个患有非综合征性耳聋的维吾尔族近亲家庭进行的突变分析。
Mutation analysis of seven consanguineous Uyghur families with non-syndromic deafness.
作者信息
Wang Zhen-tao, Chen Ying, Chen Dong-ye, Chai Yong-chuan, Pang Xiu-hong, Sun Lian-hua, Wang Xiao-wen, Yang Tao, Wu Hao
机构信息
Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
Department of Otolaryngology-Head and Neck Surgery, Xinhua Hospital, Shanghai Jiaotong University School of Medicine, Shanghai, China; Ear Institute, Shanghai Jiaotong University School of Medcine, Shanghai, China.
出版信息
Int J Pediatr Otorhinolaryngol. 2014 Sep;78(9):1513-6. doi: 10.1016/j.ijporl.2014.06.023. Epub 2014 Jun 23.
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.
目的
探讨维吾尔族近亲结婚所致非综合征性耳聋家庭的遗传病因。
方法
本研究招募了7个维吾尔族近亲结婚所致非综合征性耳聋家庭，并对其听力表型进行了特征分析。通过直接测序对所有家庭的常见耳聋基因GJB2、SLC26A4和MT-RNR1进行突变分析。
结果
在3个家庭中检测到SLC26A4基因的双等位基因突变，包括p.N392Y/p.N392Y、p.S57X/p.S57X和p.Q413R/p.L676Q，这些突变被确定为耳聋的致病原因。在GJB2和MT-RNR1基因中未发现突变。
结论
SLC26A4基因突变是维吾尔族近亲结婚耳聋家庭最常见的病因。
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