一种新型突变导致常染色体显性白内障：来自一个中国家庭的报告。

A novel mutation causes autosomal dominant cataract: A report from a Chinese family.

作者信息

Xu Li Juan, Lv Zhi Gang, Liu Ying, Zhang Xiang Xiang, Cui Yu Xin, Li Xiao Chun, Zhu Yi Jun, He Jie

机构信息

Department of Ophthalmology, Jinhua Municipal Central Hospital, School of Medicine, Zhejiang University, Jinhua, China.

Department of Ophthalmology, Sir Run Run Shaw Hospital, School of Medicine, Zhejiang University, Hangzhou, China.

出版信息

Eur J Ophthalmol. 2021 Sep;31(5):NP57-NP64. doi: 10.1177/1120672120926450. Epub 2020 Jun 4.

DOI:10.1177/1120672120926450

PMID:32498547

Abstract

PURPOSE

This study aimed to examine pathogenic mutation within one Chinese family of five-generations suffering from autosomal dominant cataract.

METHODS

Next-generation sequencing and Sanger sequencing were used to find the pathogenic variants.

RESULTS

A rare mutation, c.563G > A, in gene was found in the proband that showed symptom of non-syndromic congenital autosomal dominant cataract. This mutation had been found in all affected individuals and in one healthy infant, but it did not exist between two individuals who did not develop such disease in that family, as well as in 100 healthy subjects who showed no relation with that family. Cataracts in this family varied with different severity of lens opacities and elongation of axial length.

CONCLUSION

One missense mutation c.563G > A is reported in the gene among one Chinese family suffering from early-onset cataract, and associated novel phenotypes are the elongation of axial length and the types of cataract. Our results expand the spectrum of associated phenotypes of mutation.

摘要

目的

本研究旨在检测一个患常染色体显性白内障的五代中国家系中的致病突变。

方法

采用二代测序和桑格测序来寻找致病变异。

结果

在先证者中发现基因中一个罕见突变c.563G＞A，该先证者表现为非综合征性先天性常染色体显性白内障症状。此突变在所有患病个体及一名健康婴儿中均被发现，但在该家族中未患此病的两名个体之间以及与该家族无亲缘关系的100名健康受试者中均不存在。该家族中的白内障随着晶状体混浊严重程度和眼轴长度延长而有所不同。