ArticleBMC ophthalmology2022
A novel mutation GJA8 NM_005267.5: c.124G > A, p.(E42K) causing congenital nuclear cataract.
Article in BMC ophthalmology, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
What it found
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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.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Identification of Variants in Two Families With Congenital Cataract by Whole Exome Sequencing.Molecular genetics & genomic medicine · 2026Article
- Article
- Compound heterozygous mutations inHeliyon · 2024Article
- Novel and recurrentFrontiers in medicine · 2022Article
- Novel clinical presentation andFrontiers in medicine · 2022Article
Corrections and comments
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Authors and funding
4 authors at 3 institutions in 2 countries.
Funding
Abstract
backgroundTo identify the genetic mutation of a four-generation autosomal dominant congenital cataract family in China.
methodsTargeted region sequencing containing 778 genes associated with ocular diseases was performed to screen for the potential mutation, and Sanger sequencing was used to confirm the mutation. The homology model was constructed to identify the protein structural change, several online software were used to predict the mutation impact. CLUSTALW was used to perform multiple sequence alignment from different species.
resultsA novel heterozygous mutation, GJA8 NM_005267.5: c.124G > A, p.(E42K) was found, which cosegregated with congenital cataract phenotype in this family. Bioinformatics analysis of the mutation showed that the surface potential diagram of proteins changed. Several online programs predicted the mutation was 'Pathogenic', 'Damaging', 'Disease causing' or 'Deleterious'.
conclusionsA novel mutation NM_005267.5(GJA8):c.124G > A was identified in our study. Our finding can broaden the mutation spectrum of GJA8, enrich the phenotype-genotype correlation of congenital cataract and help to better understand the genetic background of congenital cataract.
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