ArticleMolecular vision2013
A novel insertional mutation in the connexin 46 (gap junction alpha 3) gene associated with autosomal dominant congenital cataract in a Chinese family.
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 9 papers.
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Who cites it
9 citing papers in PubMed, 15 citations in OpenAlex.
- Congenital coralliform cataract is the predominant consequence of a recurrent mutation in the CRYGD gene.Orphanet journal of rare diseases · 2023Article
- Study of The Molecular Nature of Congenital Cataracts in Patients from The Volga-Ural Region.Current issues in molecular biology · 2023Article
- Article
- Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.BMC medical genetics · 2019Article
- Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family.International journal of ophthalmology · 2017Article
- Expression of lens-related microRNAs in transparent infant lenses and congenital cataract.International journal of ophthalmology · 2017Article
- A novel MIP gene mutation analysis in a Chinese family affected with congenital progressive punctate cataract.PloS one · 2014Article
Corrections and comments
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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
purposeTo identify the genetic defect associated with autosomal dominant congenital cataract (ADCC) in a Chinese family, in which 11 individuals across four generations are affected with coralliform cataract.
methodsExome sequencing was performed in two of the ADCC-affected family members to scan for potential genetic defects. Sanger sequencing was used to verify these defects in the whole family.
resultsBy combining whole exome sequencing and Sanger sequencing, the genetic defect was revealed to be a insertion of a cytosine after coding nucleotide 1,361 (1361insC) in the gap junction alpha 3 (GJA3) gene, causing a frameshift at codon 397 (p.Ala397Glyfs×71). This frameshift mutation cosegregates with the ADCC-affected pedigree members, but is absent in unaffected relatives and 100 normal individuals.
conclusionsA 1361 insC mutation in the C-terminus of GJA3 is found to be associated with autosomal dominant congenital coralliform cataract. This finding is similar to that of a previous publication, thus providing further evidence that the GJA3 C-terminal domain is also its mutation area, and further expanding the mutation spectrum of GJA3 in association with congenital cataract.
Indexed as
Identifiers
23592915PMC3626289W2139107586What OpenQuestion holds
Registered trials
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