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Open Access Research article

A novel COL4A1 gene mutation results in autosomal dominant non-syndromic congenital cataract in a Chinese family

Xin-Yi Xia1, Na Li1, Xiang Cao1, Qiu-Yue Wu1, Tian-Fu Li2, Cui Zhang1, Wei-Wei Li1, Ying-Xia Cui1, Xiao-Jun Li1* and Chun-Yan Xue3*

Author Affiliations

1 Institute of Laboratory Medicine, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, People’s Republic of China

2 Department of Neurology, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, People’s Republic of China

3 Department of Ophthalmology, Jinling Hospital, Nanjing University School of Medicine, 305 East Zhongshan Road, Nanjing 210002, People’s Republic of China

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BMC Medical Genetics 2014, 15:97  doi:10.1186/s12881-014-0097-2

Published: 15 August 2014

Abstract

Background

Almost one-third of congenital cataracts are primarily autosomal dominant disorders, which are also called autosomal dominant congenital cataract, resulting in blindness and clouding of the lens. The purpose of this study was to identify the disease-causing mutation in a Chinese family affected by bilateral, autosomal dominant congenital cataract.

Methods

The detection of candidate gene mutation and the linkage analysis of microsatellite markers were performed for the known candidate genes. Molecular mapping and cloning of candidate genes were used in all affected family members to screen for potential genetic mutations and the mutation was confirmed by single enzyme digestion.

Results

The proband was diagnosed with isolated, congenital cataract without the typical clinical manifestations of cataract, which include diabetes, porencephaly, sporadic intracerebral hemorrhage, and glomerulopathy. A novel mutation, c.2345 G > C (Gly782Ala), in exon 31 of the collagen type IV αlpha1 (COL4A1) gene, which encodes the collagen alpha-1(IV) chain, was found to be associated with autosomal dominant congenital cataract in a Chinese family. This mutation was not found in unaffected family members or in 200 unrelated controls. Sequence analysis confirmed that the Gly782 amino acid residue is highly conserved.

Conclusions

The novel mutation (c.2345 G > C) of the COL4A1 gene is the first report of a non-syndromic, autosomal dominant congenital cataract, thereby highlighting the important role of type IV collagen in the physiological and optical properties of the lens.

Keywords:
Type IV collagen; COL4A1; Non-syndromic congenital cataract