Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing-猫眼课题宝

DOI：

发表时间：

2013-02

期刊：

Molecular Vision

影响因子：

2.2

通讯作者：

中科院分区：

医学4区

文献类型：

作者：

Yukiko Kondo;H. Saitsu;T. Miyamoto;B. Lee;K. Nishiyama;M. Nakashima;Y. Tsurusaki;H. Doi;N. Miyake;J. H. Kim;Y. Yu;N. Matsumoto

目的先天性白内障是视力障碍和儿童盲的最常见原因之一。大约四分之一到三分之一的先天性白内障病例可能有遗传原因。然而，表型变异性和遗传异质性阻碍了正确的遗传诊断。在这项研究中，我们使用全外显子组测序（WES），以确定两个韩国家庭的先天性白内障的致病性突变。方法从每个家庭的两个受影响的成员集中和处理WES。检测到的变体通过直接测序进行确认。结果WES在A家系中发现了一个突变位点，在B家系中发现了一个突变位点。先前在一个先天性白内障和小角膜家族中报道了c.61C>T（p.R21W）突变。新的突变，c.124delT，在pGC可能会导致一个过早的终止密码子（p.C42Afs*60）。结论该研究清楚地显示了WES用于不明原因先天性白内障快速基因诊断的有效性。在不久的将来，WES将成为临床服务的首选，为遗传咨询和计划生育提供有用信息。

Purpose Congenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean families with congenital cataract. Methods Two affected members from each family were pooled and processed for WES. The detected variants were confirmed with direct sequencing. Results WES readily identified a CRYAA mutation in family A and a CRYGC mutation in family B. The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. The novel mutation, c.124delT, in CRYGC may lead to a premature stop codon (p.C42Afs*60). Conclusions This study clearly shows the efficacy of WES for rapid genetic diagnosis of congenital cataract with an unknown cause. WES will be the first choice for clinical services in the near future, providing useful information for genetic counseling and family planning.

Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing

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