ArticleScientific reports2016
Identification and functional analysis of two novel connexin 50 mutations associated with autosome dominant congenital cataracts.
Article in Scientific reports, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
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Who cites it
15 citing papers in PubMed, 31 citations in OpenAlex.
- The Double-Edged Effect of Connexins and Pannexins of Glial Cells in Central and Peripheral Nervous System After Nerve Injury.Molecular neurobiology · 2025Review
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Genes & genomics · 2024Article
- Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.BMC genomics · 2024Article
- Longitudinal study of microphthalmia in connexin 50 knockout mice using spectral-domain optical coherence tomography.Frontiers in ophthalmology · 2024Article
- Global Prevalence of Severe Neonatal Jaundice among Hospital Admissions: A Systematic Review and Meta-Analysis.Journal of clinical medicine · 2023Review
- Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Frontiers in cell and developmental biology · 2022Article
- Congenital cataract - clinical and morphological aspects.Romanian journal of morphology and embryology = Revue roumaine de morphologie et embryologie · 2020Article
- GJA8 missense mutation disrupts hemichannels and induces cell apoptosis in human lens epithelial cells.Scientific reports · 2019Article
- New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Human genetics · 2019Article
- Article
- Screening, genetics, risk factors, and treatment of neonatal cataracts.Birth defects research · 2017Review
- Inherited Congenital Cataract: A Guide to Suspect the Genetic Etiology in the Cataract Genesis.Molecular syndromology · 2017Review
- Identification of a novel GJA3 mutation in a large Chinese family with congenital cataract using targeted exome sequencing.PloS one · 2017Article
- Identification of a Missense Mutation inJournal of current ophthalmologyArticle
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Authors and funding
6 authors at 2 institutions in 2 countries.
Funding
Abstract
Autosomal dominant congenital cataracts (ADCC) are clinically and genetically heterogeneous diseases. The present study recruited two Chinese families with bilateral nuclear cataract or zonular pulverulent phenotype. Direct sequencing of candidate genes identified two novel missense mutations of Cx50, Cx50P59A (c.175C > G) and Cx50R76H (c.227G > A), both co-segregated well with all affected individuals. Bioinformatics analysis predicted deleterious for both mutations. Functional and cellular behaviors of wild type and mutant Cx50 examined by stably transfecting recombinant systems revealed similar protein expression levels. Protein distribution pattern by fluorescence microscopy showed that Cx50R76H localized at appositional membranes forming gap junctions with enormous cytoplasmic protein accumulation, whereas the Cx50P59A mutation was found inefficient at forming detectable plaques. Cell growth test by MTT assay showed that induction of Cx50P59A decreased cell viability. Our study constitutes the first report that the Cx50P59A and Cx50R76H mutations are associated with ADCC and expands the mutation spectrum of Cx50 in association with congenital cataracts. The genetic, cellular, and functional data suggest that the altered intercellular communication governed by mutated Cx50 proteins may act as the molecular mechanism underlying ADCC, which further confirms the role of Cx50 in the maintenance of human lens transparency.
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