Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.
Targeted next-generation sequencing in Uyghur families with non-syndromic sensorineural hearing loss.
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针对患有非综合征性感音神经性听力损失的维吾尔族家庭进行下一代测序。
DOI：
10.1371/journal.pone.0127879
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发表时间：
2015
期刊：
影响因子：
3.7
通讯作者：
Wu H
中科院分区：
文献类型：
--
作者：
Chen Y;Wang Z;Wang Z;Chen D;Chai Y;Pang X;Sun L;Wang X;Yang T;Wu H
耳聋基因的突变谱在不同的种族中可能会有所不同。本研究在排除常见耳聋基因GJB2、SLC26A4和MT-RNR1突变的四个血缘关系维吾尔族和两个复发性维吾尔族家庭中，对非综合征性耳聋的遗传病因进行了研究。在每个家系的先证者中，对97个耳聋基因进行了有针对性的下一代测序。在4个先证者中发现了新的致病突变，包括TMC1的p.L416R/p.A438T复合杂合突变、MYO7A的p.V1880E纯合突变、PCDH15的c.1238delT移码缺失和MYO15A的c.9690+1G>；通过Sanger测序证实了突变和耳聋在每个家系内的共同分离。在1个多基因家系和1个血缘家系中均未发现致病突变。本研究为维吾尔族耳聋的遗传病因学研究提供了有用的信息。
The mutation spectrum of deafness genes may vary in different ethnical groups. In this study, we investigated the genetic etiology of nonsyndromic deafness in four consanguineous and two multiplex Uyghur families in which mutations in common deafness genes GJB2, SLC26A4 and MT-RNR1 were excluded. Targeted next-generation sequencing of 97 deafness genes was performed in the probands of each family. Novel pathogenic mutations were identified in four probands including the p.L416R/p.A438T compound heterozygous mutations in TMC1, the homozygous p.V1880E mutation in MYO7A, c.1238delT frameshifting deletion in PCDH15 and c.9690+1G>A splice site mutation in MYO15A. Co-segregation of the mutations and the deafness were confirmed within each family by Sanger sequencing. No pathogenic mutations were identified in one multiplex family and one consanguineous family. Our study provided a useful piece of information for the genetic etiology of deafness in Uyghurs.
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影响因子：
3.7
作者：
Mutai H;Suzuki N;Shimizu A;Torii C;Namba K;Morimoto N;Kudoh J;Kaga K;Kosaki K;Matsunaga T
通讯作者：
Matsunaga T
影响因子：
7.4
作者：
Chen Y;Tudi M;Sun J;He C;Lu HL;Shang Q;Jiang D;Kuyaxi P;Hu B;Zhang H
通讯作者：
Zhang H
影响因子：
30.8
作者：
Kurima, K;Peters, LM;Griffith, AJ
通讯作者：
Griffith, AJ
影响因子：
3.7
作者：
Baek JI;Oh SK;Kim DB;Choi SY;Kim UK;Lee KY;Lee SH
通讯作者：
Lee SH
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
发表时间：
2014-09-01
影响因子：
1.5
作者：
Wang, Zhen-tao;Chen, Ying;Wu, Hao
通讯作者：
Wu, Hao