Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract

• 作者: Lian-Bing Li Ming-Fu Ma Yun-Qi Pei Zhi Cheng
• 来源期刊: 国际眼科杂志：英文版
• 学科: 医学
• 关键词: geneticdiagnosis targetedexomesequencing congenital cataract
• 年，卷（期）: 2016,（5）
• 页码范围: 650-654
• 页数: 5页
• 分类号: R77

摘要

AIM: To identify disease-causing mutation in a congenital cataract family using enrichment of targeted genes combined with next-generation sequencing.· METHODS: A total of 371 known genes related to inherited eye diseases of the proband was selected and captured, followed by high-throughput sequencing. The sequencing data were analyzed by established bioinformatics pipeline. Validation was performed by Sanger sequencing.·RESULTS: A recurrent heterozygous non-synonymous mutation c.130 G >A(p.V44M) in the GJA3 gene was identified in the proband. The result was confirmed by Sanger sequencing. The mutation showed co-segregation with the disease phenotype in the family but was not detected in unaffected controls.·CONCLUSION: Targeted exome sequencing is a rapid,high-throughput and cost-efficient method for screening known genes and could be applied to the routine gene diagnosis of congenital cataract.