ArticleMolecular vision2013
Pathogenic mutations in two families with congenital cataract identified with whole-exome sequencing.
Article in Molecular vision, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 24 citations in OpenAlex.
- Identification of mutations associated with congenital cataracts in nineteen Chinese families.BMC ophthalmology · 2025Article
- NovelInternational journal of molecular sciences · 2023Article
- A Novel Mutation inOphthalmology science · 2022Article
- Case Report: AFrontiers in genetics · 2022Article
- Congenital Cataract and Its Genetics: The Era of Next-Generation SequencingTurkish journal of ophthalmology · 2021Review
- Mutation screening of crystallin genes in Chinese families with congenital cataracts.Molecular vision · 2019Article
- Metabolomics of the aqueous humor in patients with primary congenital glaucoma.Molecular vision · 2019Article
- Mutation profiles of congenital cataract genes in 21 northern Chinese families.Molecular vision · 2018Article
- Novel mutations in CRYGC are associated with congenital cataracts in Chinese families.Scientific reports · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Mutations in crystallin genes result in congenital cataract associated with other ocular abnormalities.Molecular vision · 2017Article
- Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.Chinese medical journal · 2016Article
- Recurrent mutation in the crystallin alpha A gene associated with inherited paediatric cataract.BMC research notes · 2016Article
- Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract.International journal of ophthalmology · 2016Article
- Comparison of effect of gamma ray irradiation on wild-type and N-terminal mutants of αA-crystallin.Molecular vision · 2014Article
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Authors and funding
12 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeCongenital cataract is one of the most frequent causes of visual impairment and childhood blindness. Approximately one quarter to one third of congenital cataract cases may have a genetic cause. However, phenotypic variability and genetic heterogeneity hamper correct genetic diagnosis. In this study, we used whole-exome sequencing (WES) to identify pathogenic mutations in two Korean families with congenital cataract.
methodsTwo affected members from each family were pooled and processed for WES. The detected variants were confirmed with direct sequencing.
resultsWES readily identified a CRYAA mutation in family A and a CRYGC mutation in family B. The c.61C>T (p.R21W) mutation in CRYAA has been previously reported in a family with congenital cataract and microcornea. The novel mutation, c.124delT, in CRYGC may lead to a premature stop codon (p.C42Afs*60).
conclusionsThis study clearly shows the efficacy of WES for rapid genetic diagnosis of congenital cataract with an unknown cause. WES will be the first choice for clinical services in the near future, providing useful information for genetic counseling and family planning.
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23441109PMC3580970W2138255571What OpenQuestion holds
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