Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract |
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| Authors: | Ming-Fu M Lian-Bing Li Yun-Qi Pei Zhi Cheng |
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| Affiliation: | 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;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;Department of Cell Biology and Genetics, Chongqing Medical University, Chongqing 400016, China;Department of Cell Biology and Genetics, Chongqing Medical University, Chongqing 400016, China |
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| 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. |
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| Keywords: | genetic diagnosis targeted exome sequencing congenital cataract |
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