ArticleHuman genetics2019
New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 papers.
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Who cites it
39 citing papers in PubMed, 56 citations in OpenAlex.
- Characterization of Ocular Developmental Disorders in the Israeli Population: Genotype-Phenotype Correlations and Novel Candidate Genes.Biomolecules · 2026Article
- Novel mega-deletion in BFSP1 causing autosomal recessive juvenile cataract in a Pakistani consanguineous family.Molecular biology reports · 2026Article
- Disrupted transcriptional networks regulated by CHD1L during neurodevelopment underlie the mirrored neuroanatomical and growth phenotypes of the 1q21.1 copy number variant.Nucleic acids research · 2025Article
- GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.European journal of human genetics : EJHG · 2025Article
- Congenital Aphakia Associated With aClinical case reports · 2025Article
- A review on the relationship between the distal 1q21.1 microdeletion and schizophrenia.Frontiers in genetics · 2025Review
- The rectification of heterotypic Cx46/Cx50 gap junction channels depends on intracellular magnesium.Biophysics reports · 2024Article
- Congenital anterior segment ocular disorders: Genotype-phenotype correlations and emerging novel mechanisms.Progress in retinal and eye research · 2024Review
- Genetic association ofTranslational pediatrics · 2024Article
- Four mutations identified in Chinese families with autosomal dominant congenital cataracts by next-generation sequencing.Genes & genomics · 2024Article
- Association of variants in GJA8 with familial acorea-microphthalmia-cataract syndrome.European journal of human genetics : EJHG · 2024Article
- Application of transgenic mice to the molecular pathogenesis of cataract.International journal of ophthalmology · 2024Review
- Longitudinal study of microphthalmia in connexin 50 knockout mice using spectral-domain optical coherence tomography.Frontiers in ophthalmology · 2024Article
- JAM-C Is Important for Lens Epithelial Cell Proliferation and Lens Fiber Maturation in Murine Lens Development.Investigative ophthalmology & visual science · 2023Article
- Commercial Gene Panels for Congenital Anterior Segment Anomalies: Are They All the Same?American journal of ophthalmology · 2023Observational
- Characterization of a Novel Gja8 (Cx50) Mutation in a New Cataract Rat Model.Investigative ophthalmology & visual science · 2023Article
- Screening the pathogenic causes of congenital cataract via whole exome sequencing technology in three families: Molecular genetics of congenital cataract.Molecular medicine reports · 2023Article
- Optic cup morphogenesis across species and related inborn human eye defects.Development (Cambridge, England) · 2023Review
- Identification of a New Mutation p.P88L in Connexin 50 Associated with Dominant Congenital Cataract.Frontiers in cell and developmental biology · 2022Article
- Plasma Proteins as Occupational Hazard Risk Monitors for Populations Working in Harsh Environments: A Mendelian Randomization Study.Frontiers in public health · 2022Article
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Authors and funding
32 authors at 13 institutions in 4 countries.
Funding
Abstract
GJA8 encodes connexin 50 (Cx50), a transmembrane protein involved in the formation of lens gap junctions. GJA8 mutations have been linked to early onset cataracts in humans and animal models. In mice, missense mutations and homozygous Gja8 deletions lead to smaller lenses and microphthalmia in addition to cataract, suggesting that Gja8 may play a role in both lens development and ocular growth. Following screening of GJA8 in a cohort of 426 individuals with severe congenital eye anomalies, primarily anophthalmia, microphthalmia and coloboma, we identified four known [p.(Thr39Arg), p.(Trp45Leu), p.(Asp51Asn), and p.(Gly94Arg)] and two novel [p.(Phe70Leu) and p.(Val97Gly)] likely pathogenic variants in seven families. Five of these co-segregated with cataracts and microphthalmia, whereas the variant p.(Gly94Arg) was identified in an individual with congenital aphakia, sclerocornea, microphthalmia and coloboma. Four missense variants of unknown or unlikely clinical significance were also identified. Furthermore, the screening of GJA8 structural variants in a subgroup of 188 individuals identified heterozygous 1q21 microdeletions in five families with coloboma and other ocular and/or extraocular findings. However, the exact genotype-phenotype correlation of these structural variants remains to be established. Our data expand the spectrum of GJA8 variants and associated phenotypes, confirming the importance of this gene in early eye development.
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