Identification of a novel COL4A5 mutation in a Chinese family with X-linked Alport syndrome using exome sequencing

被引：24

作者：

Guo, Yi ^{[1
,2
,3
]}

Yuan, Jinzhong ^{[4
]}

Liang, Hui ^{[2
]}

Xiao, Jingjing ^{[5
]}

Xu, Hongbo ^{[2
]}

Yuan, Lamei ^{[2
]}

Gao, Kai ^{[2
]}

Wu, Bin ^{[5
]}

Tang, Yongchang ^{[6
]}

Li, Xiaorong ^{[7
]}

Deng, Hao ^{[2
,3
]}

机构：

[1] Cent S Univ, Xiangya Med Sch, Dept Med Informat, Changsha 410013, Hunan, Peoples R China

[2] Cent S Univ, Xiangya Hosp 3, Ctr Med Expt, Changsha 410013, Hunan, Peoples R China

[3] Cent S Univ, Xiangya Hosp 3, Dept Neurol, Changsha 410013, Hunan, Peoples R China

[4] Cent S Univ, Xiangya Hosp 3, Dept Nephrol, Changsha 410013, Hunan, Peoples R China

[5] BGI Shenzhen, Shenzhen, Peoples R China

[6] BGI Wuhan, Wuhan, Peoples R China

[7] Cent S Univ, Xiangya Hosp 3, Dept Surg, Changsha 410013, Hunan, Peoples R China

来源：

MOLECULAR BIOLOGY REPORTS | 2014年 / 41卷 / 06期

基金：

中国国家自然科学基金; 高等学校博士学科点专项科研基金;

关键词：

Alport syndrome; The COL4A5 gene; Missense mutation; Diagnosis; Genetic counseling; GENOTYPE-PHENOTYPE CORRELATION; COLLAGENOUS DOMAIN; SOMATIC MOSAICISM; GENE; DIAGNOSIS;

D O I：

10.1007/s11033-014-3227-1

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

Alport syndrome (AS) is an inherited disorder and clinically characterized by glomerulonephritis and end-stage kidney disease (ESRD). The aim of this study was to identify the gene responsible for glomerulopathy in a 4-generation Chinese pedigree. Exome sequencing was conducted in four patients of the family, and then direct sequencing was performed in other members of the pedigree. A novel missense mutation c.368G > A (p.Gly123Glu) in the collagen type IV alpha-5 gene (COL4A5) was found to be the genetic cause. The p.Gly123Glu mutation occurs prior to Gly-X-Y repeats in the alpha-5 chain of type IV collagen. Neither sensorineural hearing loss nor ocular abnormalities were present in patients of this family. Other clinical features, such as age of onset, age of ESRD, disease severity and complications, varied among patients of this family. Our finding may provide new insights into the cause and diagnosis of AS, and also have implications for genetic counseling.

引用

页码：3631 / 3635

页数：5

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