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Whole exome sequencing identifies a novel DFNA9 mutation, C162Y
Gao, J.1; Xue, J.1; Chen, Li1; Ke, X.1; Qi, Y.2; Liu, Y.1,2
关键词autosomal dominant 9 COCH gene deafness novel mutation whole exome sequencing
刊名CLINICAL GENETICS
2013-05-01
DOI10.1111/cge.12006
83期:5页:477-481
收录类别SCI
文章类型Article
WOS标题词Science & Technology
类目[WOS]Genetics & Heredity
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
研究领域[WOS]Genetics & Heredity
关键词[WOS]COCHLEAR GENE ; HEARING-LOSS ; INNER-EAR ; DEAFNESS ; DYSFUNCTION
英文摘要

Gao J, Xue J, Chen L, Ke X, Qi Y, Liu Y. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y [Correction added on 25 October 2012, after first online publication: The title in the citaton has been corrected to ′Whole exome sequencing identifies a novel DFA9 mutation, C1612Y′.] Clin Genet 2013: 83: 477-481. (C) John Wiley & Sons A/S. Published by Blackwell Publishing Ltd, 2012 We report the genetic analysis of a Chinese family with autosomal dominant non-syndromic progressive sensorineural hearing loss. Taking advantage of next-generation high-throughput DNA sequencing technology, we combined whole exome capture sequencing with Sanger direct sequencing. A novel missense mutation in the coagulation factor C homolog (COCH) gene was identified in a consanguineous Chinese family. This missense mutation in the seventh exon (c.889G>A; p. C162Y) of COCH is most probably a disease-causing mutation and it segregates with the disease. The mutation is not found in the single nucleotide polymorphism (SNP) database, the yhSNP database, the 1000 genomes SNP database or in matching normal controls. It is the first reported autosomal dominant nonsyndromic sensorineural deafness 9 (DFNA9) mutation outside the limulus factor C, cochlin and late gestation lung protein and von Willebrand factor 2 domain, i.e. the first reported DFNA9 mutation in the intervening domain of cochlin, encoded by the COCH gene. In the future, we will focus on functional studies of this mutation.

语种英语
所属项目编号30872864
资助者National Natural Science Foundation of China ; National Natural Science Foundation of China
WOS记录号WOS:000318163900013
引用统计
被引频次:17[WOS]   [WOS记录]     [WOS相关记录]
文献类型期刊论文
条目标识符http://ir.bjmu.edu.cn/handle/400002259/66008
专题北京大学第一临床医学院
作者单位1.Peking Univ, Hosp 1, Lab Ctr, Beijing 100034, Peoples R China
2.Peking Univ, Hosp 1, Dept Otolaryngol Head & Neck Surg, Beijing 100034, Peoples R China
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GB/T 7714
Gao, J.,Xue, J.,Chen, Li,et al. Whole exome sequencing identifies a novel DFNA9 mutation, C162Y[J]. CLINICAL GENETICS,2013,83(5):477-481.
APA Gao, J.,Xue, J.,Chen, Li,Ke, X.,Qi, Y.,&Liu, Y..(2013).Whole exome sequencing identifies a novel DFNA9 mutation, C162Y.CLINICAL GENETICS,83(5),477-481.
MLA Gao, J.,et al."Whole exome sequencing identifies a novel DFNA9 mutation, C162Y".CLINICAL GENETICS 83.5(2013):477-481.
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