Home > Archive>Volume 9, Issue 5, 2016 >650-654. DOI:10.18240/ijo.2016.05.02
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Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract
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Supported by the National Natural Science Foundation of China (No.81300463; No.81130051); Fundamental Research Funds for Non-profit Public Scientific Research Institutions of Chongqing (No.2012CSTC-jbby-01704); Natural Science Foundation Project of CQ CSTC (No.cstc2013jcyjA10086); Promotion Program for Young and Middle-aged Teacher in Scientific Research of Basic Medicine College, Chongqing Medical University (No.JC201306).

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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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Ming-Fu Ma, Lian-Bing Li, Yun-Qi Pei,/et al.Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract. Int J Ophthalmol, 2016,9(5):650-654

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Publication History
  • Received:June 03,2015
  • Revised:July 28,2015
  • Online: May 18,2016
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