Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
Novel compound heterozygous mutations in the MYO15A gene in autosomal recessive hearing loss identified by whole-exome sequencing.
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全外显子组测序鉴定出常染色体隐性听力损失患者 MYO15A 基因的新型复合杂合突变
DOI：
10.1186/1479-5876-11-284
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发表时间：
2013-11-09
影响因子：
7.4
通讯作者：
Dai P
中科院分区：
文献类型：
--
作者：
Gao X;Zhu QY;Song YS;Wang GJ;Yuan YY;Xin F;Huang SS;Kang DY;Han MY;Guan LP;Zhang JG;Dai P
遗传缺陷在先天性听力损失中起重要作用，约60%的婴儿耳聋是由遗传缺陷造成的。遗传性非综合征性听力损失是高度异质性的，大多数假定遗传病因的患者缺乏特定的分子诊断。通过全外显子组测序，确定了常染色体隐性非综合征性听力损失（ARNSHL）家族4794的致病基因。我们还使用56名中国家族性ARNSHL（常染色体隐性非综合征性听力损失）患者的DNA和108个种族匹配的阴性样本进行扩展变异分析。我们鉴定出MYO15A c.IVS25 + 3G > A和c.8375t>c （p.V2792A）为致病突变。在4794家族中，这两种突变与听力损失共分离，但在56名指数患者和108名种族匹配的对照组中不存在。我们的研究结果表明，4794家族的听力损失是由MYO15A的新型复合杂合突变引起的。
Inherited genetic defects play an important role in congenital hearing loss, contributing to about 60% of deafness occurring in infants. Hereditary nonsyndromic hearing loss is highly heterogeneous, and most patients with a presumed genetic etiology lack a specific molecular diagnosis. By whole exome sequencing, we identified responsible gene of family 4794 with autosomal recessively nonsyndromic hearing loss (ARNSHL). We also used DNA from 56 Chinese familial patients with ARNSHL (autosomal recessive nonsyndromic hearing loss) and 108 ethnicity-matched negative samples to perform extended variants analysis. We identified MYO15A c.IVS25 + 3G > A and c.8375 T > C (p.V2792A) as the disease-causing mutations. Both mutations co-segregated with hearing loss in family 4794, but were absent in the 56 index patients and 108 ethnicity-matched controls. Our results demonstrated that the hearing loss of family 4794 was caused by novel compound heterozygous mutations in MYO15A.
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影响因子：
56.9
作者：
Wang, AH;Liang, Y;Friedman, TB
通讯作者：
Friedman, TB
DOI：
10.1073/pnas.2334417100
发表时间：
2003-11-25
影响因子：
11.1
作者：
Belyantseva, IA;Boger, ET;Friedman, TB
通讯作者：
Friedman, TB
影响因子：
1.4
作者：
Cengiz, F. Basak;Duman, Duygu;Tekin, Mustafa
通讯作者：
Tekin, Mustafa
影响因子：
9.8
作者：
Sirmaci, Asli;Walsh, Tom;Tekin, Mustafa
通讯作者：
Tekin, Mustafa
土耳其听力损失家庭中的 MY015A（DFNB3）突变和新型运动结构域突变的功能建模
影响因子：
2
作者：
Kalay, Ersan;Uzumcu, Abdullah;Kremer, Hannie
通讯作者：
Kremer, Hannie