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Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH
Joint Authors
Tang, Mingliang
Gu, Xiaodong
Su, Wenling
Guo, Luo
Zhao, Liping
Li, Huawei
Source
Issue
Vol. 2016, Issue 2016 (31 Dec. 2016), pp.1-4, 4 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2016-12-27
Country of Publication
Egypt
No. of Pages
4
Main Subjects
Abstract EN
DFNA9 is a late-onset, progressive, autosomal dominantly inherited sensorineural hearing loss with vestibular dysfunction, which is caused by mutations in the COCH (coagulation factor C homology) gene.
In this study, we investigated a Chinese family segregating autosomal dominant nonsyndromic sensorineural hearing loss.
We identified a missense mutation c.T275A p.V92D in the LCCL domain of COCH cosegregating with the disease and absent in 100 normal hearing controls.
This mutation leads to substitution of the hydrophobic valine to an acidic amino acid aspartic acid.
Our data enriched the mutation spectrum of DFNA9 and implied the importance for mutation screening of COCH in age related hearing loss with vestibular dysfunctions.
American Psychological Association (APA)
Gu, Xiaodong& Su, Wenling& Tang, Mingliang& Guo, Luo& Zhao, Liping& Li, Huawei. 2016. Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH. Neural Plasticity،Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1113187
Modern Language Association (MLA)
Gu, Xiaodong…[et al.]. Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH. Neural Plasticity No. 2016 (2016), pp.1-4.
https://search.emarefa.net/detail/BIM-1113187
American Medical Association (AMA)
Gu, Xiaodong& Su, Wenling& Tang, Mingliang& Guo, Luo& Zhao, Liping& Li, Huawei. Massively Parallel Sequencing of a Chinese Family with DFNA9 Identified a Novel Missense Mutation in the LCCL Domain of COCH. Neural Plasticity. 2016. Vol. 2016, no. 2016, pp.1-4.
https://search.emarefa.net/detail/BIM-1113187
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-1113187