ArticleIndian journal of ophthalmology2016
A novel splice donor site mutation in EPHA2 caused congenital cataract in a Chinese family.
Article in Indian journal of ophthalmology, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Abnormal function ofInternational journal of ophthalmology · 2024Article
- A mutatedInternational journal of ophthalmology · 2021Article
- Functional analysis of deleteriousMolecular vision · 2021Article
- Functional analysis of deleteriousMolecular vision · 2021Article
- Novel mutations associated with autosomal-dominant congenital cataract identified in Chinese families.Experimental and therapeutic medicine · 2019Article
- Genes and genetics in eye diseases: a genomic medicine approach for investigating hereditary and inflammatory ocular disorders.International journal of ophthalmology · 2018Review
- MiR-2964a-5p binding site SNP regulatesOncotarget · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
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6 authors at 1 institution in 1 country.
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Abstract
backgroundCongenital 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.
methodsWhole 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.
resultsWe 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.
conclusionsThe 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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