二个无虹膜症家系致病基因的鉴定

doi:10.16150/j.1671-2870.2017.02.008

诊断学理论与实践 ›› 2017, Vol. 16 ›› Issue (02): 162-165.doi: 10.16150/j.1671-2870.2017.02.008

二个无虹膜症家系致病基因的鉴定

魏习薇¹, 尹海涛^2,*, 陈蕾¹, 杨文蕾², 陶晨², 顾鸣敏¹

1.上海交通大学医学院医学遗传学实验室,上海 200025;
2.上海交通大学医学院附属仁济医院眼科,上海 200127

收稿日期:2017-02-20 出版日期:2017-04-25 发布日期:2017-04-25
通讯作者: 顾鸣敏 E-mail: gumm@sjtu.edu.cn; 陶晨 E-mail: taochen1373@163.com
作者简介:*并列第一作者
基金资助:
国家自然科学基金（31571295）

Identification of mutated gene in two pedigrees with aniridia

WEI Xiwei¹, YIN Haitao², CHEN Lei¹, YANG Wenlei², TAO Chen², GU Mingmin¹

1. Unit of Medical Genetics, Shanghai Jiao Tong University School of Medicine, Shanghai 200025, China;
2. Department of Ophthalmology, Renji Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai 200127, China

Received:2017-02-20 Online:2017-04-25 Published:2017-04-25

摘要/Abstract

摘要： 目的明确2个呈常染色体显性遗传的无虹膜症家系的临床特征,并找出导致该病的基因突变。方法 2个家系无虹膜症患者接受遗传咨询及眼科检查,并采用候选基因法分别对2个家系成员的人类配对盒基因6（human paired box gene 6,PAX6）进行突变筛查,对未检出突变的家系进成员行外显子捕获及全外显子组测序。结果家系1患者完全符合无虹膜症的临床特征,家系2患者还出现上睑下垂的表型。突变筛查发现,家系1的PAX6基因存在一个已知的基因突变c.718C>T(p.Arg240*),但家系2未筛查到任何已知的基因突变。结论家系1中发现一个PAX6基因突变(p.Arg240*),但在家系2中尚未筛查到致病基因,提示无虹膜症尚存在新的遗传异质性。

关键词: 无虹膜症, 人类配对盒基因6, Arg240*, 外显子测序

Abstract: Objective: To study the clinical features of two pedigrees of families with autosomal dominant aniridia, and to identify the pathogenic genes of the 2 families. Methods: All affected members underwent interrogation and ophthalmological examinations. Screening for PAX6 gene mutations was carried out in the 2 families. Family 2 in which no mutation was detected was also detected by exon capture and whole exome sequencing. Results: The patients of Family 1 pedigrees were completely consistent with the clinical features of aniridia, and the patients of Family 2 also had furthermore the phenotype of ptosis. Mutation screening showed that there was a known PAX6 gene mutation c.718C>T (p.Arg240*) in Family 1, but no mutation of PAX6 gene and other known genes were detected in Family 2. Conclusions: A PAX6 gene mutation (p.Arg240*) is detected in pedigrees of Family 1, but no disease-causing gene is yet detected in pedigrees of Family 2, denoting there is a novel genetic heterogeneity in aniridia.

Key words: Aniridia, Human paired box gene 6, Arg240*, Exome-sequencing

中图分类号:

R773.1

魏习薇, 尹海涛, 陈蕾, 杨文蕾, 陶晨, 顾鸣敏. 二个无虹膜症家系致病基因的鉴定[J]. 诊断学理论与实践, 2017, 16(02): 162-165.

WEI Xiwei, YIN Haitao, CHEN Lei, YANG Wenlei, TAO Chen, GU Mingmin. Identification of mutated gene in two pedigrees with aniridia[J]. Journal of Diagnostics Concepts & Practice, 2017, 16(02): 162-165.

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二个无虹膜症家系致病基因的鉴定

Identification of mutated gene in two pedigrees with aniridia

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