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Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing

BACKGROUND & OBJECTIVES: Alport syndrome (AS) is an inherited disorder characterized by glomerulonephritis and end-stage renal disease (ESRD). The aim of this study was to identify the gene responsible for the glomerulopathy in a Chinese family with autosomal dominant AS using exome sequencing....

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Autores principales: Deng, Sheng, Xu, Hongbo, Yuan, Jinzhong, Xiao, Jingjing, Yuan, Lamei, Deng, Xiong, Guan, Liping, Zhu, Anding, Rong, Pengfei, Zhang, Jianguo, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Medknow Publications & Media Pvt Ltd 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206870/
https://www.ncbi.nlm.nih.gov/pubmed/27934798
http://dx.doi.org/10.4103/0971-5916.195026
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author Deng, Sheng
Xu, Hongbo
Yuan, Jinzhong
Xiao, Jingjing
Yuan, Lamei
Deng, Xiong
Guan, Liping
Zhu, Anding
Rong, Pengfei
Zhang, Jianguo
Deng, Hao
author_facet Deng, Sheng
Xu, Hongbo
Yuan, Jinzhong
Xiao, Jingjing
Yuan, Lamei
Deng, Xiong
Guan, Liping
Zhu, Anding
Rong, Pengfei
Zhang, Jianguo
Deng, Hao
author_sort Deng, Sheng
collection PubMed
description BACKGROUND & OBJECTIVES: Alport syndrome (AS) is an inherited disorder characterized by glomerulonephritis and end-stage renal disease (ESRD). The aim of this study was to identify the gene responsible for the glomerulopathy in a Chinese family with autosomal dominant AS using exome sequencing. METHODS: A 4-generation, 30-member Chinese Han family was enrolled in this study. Exome sequencing was conducted in the proband of the family, and then direct sequencing was performed in family members of the pedigree and 100 normal controls. RESULTS: A novel frameshift mutation, c.3213delA (p.Gly1072Glufs*69), in the collagen type IV alpha-4 gene (COL4A4) was found to be the genetic cause. Neither sensorineural hearing loss nor ocular abnormalities were present in the patients of this family. Other clinical features, such as age of onset, age of ESRD occurring and disease severity, varied among the patients of this family. INTERPRETATION & CONCLUSIONS: A novel frameshift mutation, c.3213delA (p.Gly1072Glufs*69) in the COL4A4 gene, was identified in the Chinese pedigree with autosomal dominant AS. Our findings may provide new insights into the cause and diagnosis of AS and also have implications for genetic counselling.
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spelling pubmed-52068702017-01-25 Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing Deng, Sheng Xu, Hongbo Yuan, Jinzhong Xiao, Jingjing Yuan, Lamei Deng, Xiong Guan, Liping Zhu, Anding Rong, Pengfei Zhang, Jianguo Deng, Hao Indian J Med Res Original Article BACKGROUND & OBJECTIVES: Alport syndrome (AS) is an inherited disorder characterized by glomerulonephritis and end-stage renal disease (ESRD). The aim of this study was to identify the gene responsible for the glomerulopathy in a Chinese family with autosomal dominant AS using exome sequencing. METHODS: A 4-generation, 30-member Chinese Han family was enrolled in this study. Exome sequencing was conducted in the proband of the family, and then direct sequencing was performed in family members of the pedigree and 100 normal controls. RESULTS: A novel frameshift mutation, c.3213delA (p.Gly1072Glufs*69), in the collagen type IV alpha-4 gene (COL4A4) was found to be the genetic cause. Neither sensorineural hearing loss nor ocular abnormalities were present in the patients of this family. Other clinical features, such as age of onset, age of ESRD occurring and disease severity, varied among the patients of this family. INTERPRETATION & CONCLUSIONS: A novel frameshift mutation, c.3213delA (p.Gly1072Glufs*69) in the COL4A4 gene, was identified in the Chinese pedigree with autosomal dominant AS. Our findings may provide new insights into the cause and diagnosis of AS and also have implications for genetic counselling. Medknow Publications & Media Pvt Ltd 2016-08 /pmc/articles/PMC5206870/ /pubmed/27934798 http://dx.doi.org/10.4103/0971-5916.195026 Text en Copyright: © Indian Journal of Medical Research http://creativecommons.org/licenses/by-nc-sa/3.0 This is an open access article distributed under the terms of the Creative Commons Attribution-NonCommercial-ShareAlike 3.0 License, which allows others to remix, tweak, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms.
spellingShingle Original Article
Deng, Sheng
Xu, Hongbo
Yuan, Jinzhong
Xiao, Jingjing
Yuan, Lamei
Deng, Xiong
Guan, Liping
Zhu, Anding
Rong, Pengfei
Zhang, Jianguo
Deng, Hao
Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
title Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
title_full Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
title_fullStr Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
title_full_unstemmed Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
title_short Identification of a novel collagen type IV alpha-4 (COL4A4) mutation in a Chinese family with autosomal dominant Alport syndrome using exome sequencing
title_sort identification of a novel collagen type iv alpha-4 (col4a4) mutation in a chinese family with autosomal dominant alport syndrome using exome sequencing
topic Original Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5206870/
https://www.ncbi.nlm.nih.gov/pubmed/27934798
http://dx.doi.org/10.4103/0971-5916.195026
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