Ming-Fu Ma1, Lian-Bing Li1, Yun-Qi Pei2, Zhi Cheng2. 1. Key Laboratory of Birth Defects and Reproductive Health of the National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute), Chongqing 400020, China. 2. Department of Cell Biology and Genetics, Chongqing Medical University, Chongqing 400016, China.
Abstract
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.130G>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.
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.130G>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.
Authors: Jian Wu; Hanno Matthaei; Anirban Maitra; Marco Dal Molin; Laura D Wood; James R Eshleman; Michael Goggins; Marcia I Canto; Richard D Schulick; Barish H Edil; Christopher L Wolfgang; Alison P Klein; Luis A Diaz; Peter J Allen; C Max Schmidt; Kenneth W Kinzler; Nickolas Papadopoulos; Ralph H Hruban; Bert Vogelstein Journal: Sci Transl Med Date: 2011-07-20 Impact factor: 17.956