A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing
Joint Authors
Xu, Hongbo
Deng, Xiong
Deng, Sheng
Yuan, Jinzhong
Guan, Liping
Xu, Fengping
Xiao, Jingjing
Xiu, Xiaofei
Zeng, Zhaoyang
Source
Issue
Vol. 2014, Issue 2014 (31 Dec. 2014), pp.1-5, 5 p.
Publisher
Hindawi Publishing Corporation
Publication Date
2014-07-06
Country of Publication
Egypt
No. of Pages
5
Main Subjects
Abstract EN
Alport syndrome (AS) is a monogenic disease of the basement membrane (BM), resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies.
It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3), the collagen type IV alpha-4 gene (COL4A4), and the collagen type IV alpha-5 gene (COL4A5), which encodes type IV collagen α3, α4, and α5 chains, respectively.
To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Glnfs*36) in the COL4A5 gene was identified.
This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family.
Neither sensorineural hearing loss nor typical COL4A5-related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy) were present in patients of this family.
The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD).
Our discovery broadens the mutation spectrum in the COL4A5 gene associated with AS, which may also shed new light on genetic counseling for AS.
American Psychological Association (APA)
Xiu, Xiaofei& Yuan, Jinzhong& Deng, Xiong& Xiao, Jingjing& Xu, Hongbo& Zeng, Zhaoyang…[et al.]. 2014. A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing. BioMed Research International،Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-452845
Modern Language Association (MLA)
Xiu, Xiaofei…[et al.]. A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing. BioMed Research International No. 2014 (2014), pp.1-5.
https://search.emarefa.net/detail/BIM-452845
American Medical Association (AMA)
Xiu, Xiaofei& Yuan, Jinzhong& Deng, Xiong& Xiao, Jingjing& Xu, Hongbo& Zeng, Zhaoyang…[et al.]. A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing. BioMed Research International. 2014. Vol. 2014, no. 2014, pp.1-5.
https://search.emarefa.net/detail/BIM-452845
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references
Record ID
BIM-452845