ArticleMolecular vision2012
A novel p.F206I mutation in Cx46 associated with autosomal dominant congenital cataract.
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 7 papers.
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Who cites it
7 citing papers in PubMed.
- A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.BMC ophthalmology · 2025Article
- Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.Current issues in molecular biology · 2023Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.PloS one · 2017Article
- Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.Scientific reports · 2016Article
- A novel P20R mutation in the alpha-B crystallin gene causes autosomal dominant congenital posterior polar cataracts in a Chinese family.BMC ophthalmology · 2014Article
- Connexin mutants and cataracts.Frontiers in pharmacology · 2013Article
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Authors and funding
2 authors.
Funding
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Abstract
purposeTo identify the genetic defect in a Chinese family with bilateral congenital cataract.
methodsA three-generation family was recruited in this study. Detailed family history and clinical data were recorded. Ten candidate genes were screened for causative mutations. Direct sequencing was performed to analyze the cosegregation of the genotype with the disease phenotype.
resultsAffected individuals presented embryonal nuclear opacities in the lens. Sequencing of the candidate genes showed a heterozygous c. 616T>A variation in the connexin 46 (Cx46) gene, which resulted in the replacement of a highly conserved phenylalanine by isoleucine at codon 206 (p. F206I). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or ethnically matched controls.
conclusionsWe report a novel mutation (p.F206I) in the fourth transmembrane domain of connexin 46. These findings thus expand the mutation spectrum of Cx46 in association with congenital cataract.
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