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学科主题: 临床医学
题名:
Whole exome sequencing identifies a novel DFNA9 mutation, C162Y
作者: 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
发表日期: 2013-05-01
DOI: 10.1111/cge.12006
卷: 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
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
项目资助者: National Natural Science Foundation of China
WOS记录号: WOS:000318163900013
Citation statistics:
内容类型: 期刊论文
URI标识: http://ir.bjmu.edu.cn/handle/400002259/66008
Appears in Collections:北京大学第一临床医学院_期刊论文

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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

Recommended Citation:
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.
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