ArticleMolecular vision2012
A nonsense mutation of CRYGC associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese pedigree.
Article in Molecular vision, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 24 citations in OpenAlex.
- Genetic spectrum of congenital cataract with optional ocular and multisystem abnormalities.BMC medical genomics · 2025Article
- Genetic Landscape of Congenital Cataracts in a Swiss Cohort: Addressing Diagnostic Oversights in Nance-Horan Syndrome.Biomedicines · 2025Article
- A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.BMC ophthalmology · 2025Article
- NovelInternational journal of molecular sciences · 2023Article
- Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.Current issues in molecular biology · 2023Article
- A Novel Mutation inOphthalmology science · 2022Article
- Case Report: AFrontiers in genetics · 2022Article
- The genetic landscape of crystallins in congenital cataract.Orphanet journal of rare diseases · 2020Article
- Novel Mutations in the Crystallin Gene in Age-Related Cataract Patients from a North Indian Population.Molecular syndromology · 2017Article
- 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
- A novel truncation mutation inMolecular vision · 2017Article
Corrections and comments
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Authors and funding
7 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo report the identification of a nonsense mutation in γC-crystallin (CRYGC) associated with autosomal dominant congenital nuclear cataracts and microcornea in a Chinese family.
methodsWe investigated four generations of a Chinese family six of whose members were affected by nuclear cataracts and microcornea. The genomic DNA was extracted from peripheral blood leukocytes. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. The effects of amino acid changes on the structure and function of proteins were predicted by bioinformatics analysis.
resultsAll affected individuals in this family exhibited nuclear cataracts and microcornea. Direct sequencing of the candidate gene cluster showed a c.471G>A transition in exon 3 of CRYGC, which co-segregated according to family members with cataracts, and was not observed in 100 normal controls. This single nucleotide change was predicted to introduce a translation stop codon at tryptophan 157 (W157X). Bioinformatics analysis showed that the mutation was predicted to affect the function and secondary structure of the CRYGC protein.
conclusionsThis study identified a disease-causing mutation c.471G>A in CRYGC in a Chinese family with cataracts, expanding the mutation spectrum of CRYGC causing congenital cataracts.
Indexed as
Identifiers
22876111PMC3413427W1511933445What OpenQuestion holds
Registered trials
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