ArticleMolecular vision2011
A novel mutation in the connexin 46 (GJA3) gene associated with congenital cataract in a Chinese pedigree.
Article in Molecular vision, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
8 citing papers in PubMed.
- A novel GJA3 mutation causing autosomal dominant congenital perinuclear cataracts.BMC ophthalmology · 2025Article
- Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.Molecular genetics & genomic medicine · 2022Article
- Pathogenic genetic variants identified in Australian families with paediatric cataract.BMJ open ophthalmology · 2022Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Connexin mutants and cataracts.Frontiers in pharmacology · 2013Article
- Coralliform cataract caused by a novel connexin46 (GJA3) mutation in a Chinese family.Molecular vision · 2012Article
- A recurrent missense mutation in GJA3 associated with autosomal dominant cataract linked to chromosome 13q.Molecular vision · 2011Article
- Congenital cataract: a guide to genetic and clinical management.Therapeutic advances in rare diseaseReview
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
9 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the potential pathogenic mutation in a three-generation Chinese family with congenital nuclear pulverulent cataracts.
methodsA three-generation pedigree was recruited for our study. Three patients and four healthy members of the family underwent a comprehensive clinical examination. Genomic DNA extracted from peripheral blood was amplified using the polymerase chain reaction (PCR) method and the exons of all candidate genes were sequenced.
resultsWhen sequencing the encoding regions of the candidate genes, a novel mutation (c.559C>T) was identified in the gap junction protein alpha 3 (GJA3) gene, which resulted in the substitution of highly conserved proline by serine at codon 187 (P187S). There was no noticeable nucleotide polymorphism in other candidate genes. The mutation co-segregated with all patients, but was absent in the healthy members and 100 normal individuals.
conclusionsThe present study identified a novel mutation (c.559C>T) in the GJA3 gene associated with autosomal dominant pulverulent cataracts in a Chinese family. As the first report to relate p.P187S mutation in GJA3, it expands the mutation spectrum of GJA3 in association with congenital cataracts.
Indexed as
Identifiers
21647269PMC3107996What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.