ArticleMolecular vision2011
Another evidence for a D47N mutation in GJA8 associated with autosomal dominant congenital cataract.
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 14 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
14 citing papers in PubMed, 19 citations in OpenAlex.
- Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Frontiers in cell and developmental biology · 2022Article
- X-linked inheritances recessive of congenital nystagmus and autosomal dominant inheritances of congenital cataracts coexist in a Chinese family: a case report and literature review.BMC medical genetics · 2019Review
- Detection of c.139G>A (D47N) mutation inJournal of genetics · 2018Article
- Next-generation sequencing for D47N mutation in Cx50 analysis associated with autosomal dominant congenital cataract in a six-generation Chinese family.BMC ophthalmology · 2017Article
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Mutation analysis of connexin 50 gene among Iranian families with autosomal dominant cataracts.Iranian journal of basic medical sciences · 2017Article
- Exome sequencing identifies a novel mutation in GJA8 associated with inherited cataract in a Chinese family.Graefe's archive for clinical and experimental ophthalmology = Albrecht von Graefes Archiv fur klinische und experimentelle Ophthalmologie · 2017Article
- Mutation analysis of two families with inherited congenital cataracts.Molecular medicine reports · 2015Article
- Mutant connexin 50 (S276F) inhibits channel and hemichannel functions inducing cataract.Journal of genetics · 2015Article
- Connexin50D47A decreases levels of fiber cell connexins and impairs lens fiber cell differentiation.Investigative ophthalmology & visual science · 2013Article
- A novel connexin 50 gene (gap junction protein, alpha 8) mutation associated with congenital nuclear and zonular pulverulent cataract.Molecular vision · 2013Article
- Connexin mutants and cataracts.Frontiers in pharmacology · 2013Article
- Cx43, ZO-1, alpha-catenin and beta-catenin in cataractous lens epithelial cells.Journal of biosciences · 2012Article
- Identification of a Missense Mutation inJournal of current ophthalmologyArticle
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
purposeTo identify the pathogenic gene mutation in a Chinese family with autosomal dominant inherited nuclear cataract.
methodsAfter obtained informed consent, detailed ophthalmic examinations were performed, genomic DNAs were obtained from eighteen family members in a four-generation Chinese family with five affected. All exons of candidate genes were amplified by polymerase chain reaction (PCR) and were sequenced performed by bidirectional sequencing. The stability of mutation was predicted with Prediction of Protein Mutant Stability changes (PoPMuSiC). The structure homology modeling of the mutant protein was based on Swiss-Model Serve, and its structure was displayed and compared with human connexin26 using the RasMol software.
resultsBy sequencing the encoding regions of the candidate genes, a missence mutation (c.139G>A) was detected in gap junction protein alpha 8 (GJA8) gene, which resulted in the substitution of highly conserved aspartic acid by asparagine at codon 47 (p.D47N). The mutation co-segregated with all patients and was absent in 100 normal Chinese controls. PoPMuSiC analysis showed the change in folding free energy upon mutation (ΔΔG) is 0.31 kcal/mol and the mutation p.D47N is destabilizing. The homology modeling showed that the structure of the mutant protein was different with that of human connexin26.
conclusionsThe study identified a missence mutation (c.139G>A) in GJA8 gene associated with autosomal dominant congenital cataract in a Chinese family. It gave further evidence for GJA8 associated with congenital cataract.
Indexed as
Identifiers
21921990PMC3171490W1573871709What 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.