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ORIGINAL ARTICLE
Year : 2016  |  Volume : 64  |  Issue : 5  |  Page : 364-368

A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family


1 Department of Ophthalmology, Peking University Third Hospital, Key Laboratory of Vision Loss and Restoration, Ministry of Education, Beijing 100191, China
2 BGI Education Center, University of Chinese Academy of Sciences, Shenzhen 518083; BGI-Shenzhen, Shenzhen 518083, China
3 BGI-Shenzhen, Shenzhen 518083, China
4 BGI-Shenzhen, Shenzhen 518083; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, Shenzhen 518083; Shenzhen Key Laboratory of Genomics, Shenzhen 518083, China

Correspondence Address:
Prof. Xiuqing Zhang
BGI-Shenzhen, Shenzhen 518083; The Guangdong Enterprise Key Laboratory of Human Disease Genomics, Shenzhen 518083; Shenzhen Key Laboratory of Genomics, Shenzhen 518083
China
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0301-4738.185597

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Background: Congenital cataract is a rare disorder characterized by crystallin denaturation, which becomes a major cause of childhood blindness. Although more than fifty pathogenic genes for congenital cataract have been reported, the genetic causes of many cataract patients remain unknown. In this study, the aim is to identify the genetic cause of a five-generation Chinese autosomal dominant congenital cataract family. Methods: Whole exome sequencing (WES) was performed on three affected and one unaffected member of the family, known causative genes were scanned first. Sanger sequencing was used to validate co-segregation of the candidate variant in the family. The impact on the transcript and amino acid sequences of the variant was further analyzed. Results: We identified a novel splice donor site mutation c. 2825+1G >A in EPHA2 that was absent in public and in-house databases and showed co-segregation in the family. This variant resulted in an altered splice that led to protein truncation. Conclusions: The mutation we identified was responsible for congenital cataract in our studied family. Our findings broaden the spectrum of causative mutations in EPHA2 gene for congenital cataract and suggest that WES is an efficient strategy to scan variants in known causative genes for genetically heterogeneous diseases.


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