GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

doi:10.1038/s41431-025-01843-8

Loading publication...

Noodle always counts identifier-free feature events for service operation. With your permission, Google Analytics can also estimate audience and engagement. Search text, publication identifiers, cookies, IP addresses and browser fingerprints are never included in Noodle's first-party event counters.

Privacy details

Community

Back to search

Article

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.

European journal of human genetics : EJHG - 1 Jul 2025

Merepa Solomon S, Reis Linda M, Damián Alejandra, Bardakjian Tanya, Schneider Adele, Trujillo-Tiebas María Jose, Ayuso Carmen, Galarza Laura Cortázar, Saez Villaverde Raquel, Ortiz-Cabrera Nelmar Valentina, Bax Dorine A, Holt Richard, Ceroni Fabiola, Edery Patrick, Grelet Maude, Riccardi Florence, Maillard Lauriane, Costakos Deborah, Plaisancié Julie, Chassaing Nicolas, Corton Marta, Semina Elena V, Ragge Nicola K

Abstract excerpt

Variants in gap junction protein alpha 8 (GJA8), the gene encoding connexin 50 (Cx50), are primarily associated with developmental cataract, although some are associated with severe structural eye anomalies, such as aphakia (absent lens), microphthalmia (small eyes), and sclerocornea. To further define the relationship of GJA8 variants to ocular developmental disorders, we screened four large international...

Read the complete abstract on PubMed

Topics

Share this publication in a Topic to start or enrich a Post.

Share to Cataract

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Child, Preschool

Share to Connexins

Share to Eye Abnormalities

Share to Genetic Association Studies

Share to Infant

Share to Mutation, Missense

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 40301690
DOI: 10.1038/s41431-025-01843-8
PMCID: PMC12229616

Genes

GJA8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GJA8-associated developmental eye disorders: a new multicentre study highlights mutational hotspots and genotype-phenotype correlations.PMID 40301690Read ↗

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.Semantic proximity Read ↗

New mutations in GJA8 expand the phenotype to include total sclerocornea.Semantic proximity Read ↗

Identification and functional analysis of two GJA8 variants in Chinese families with eye anomalies.Semantic proximity Read ↗

Next-Generation Sequencing in Congenital Eye Malformations: Identification of Genetic Causes and Comparison of Different Panel-Based Diagnostic StrategiesSemantic proximity Read ↗

Novel mutations in GJA8 associated with autosomal dominant congenital cataract and microcornea.Semantic proximity Read ↗

A Missense Mutation in GJA8 Encoding Connexin 50 in a Chinese Pedigree with Autosomal Dominant Congenital Cataract.Semantic proximity Read ↗

Exome sequencing in developmental eye disease leads to identification of causal variants in GJA8, CRYGC, PAX6 and CYP1B1.Semantic proximity Read ↗

Heterozygous GJA1 variants with ocular phenotype: Missense in domain but truncation out of domain.Semantic proximity Read ↗

Sporadic and Familial Congenital Cataracts: Mutational Spectrum and New Diagnoses Using Next-Generation Sequencing.Semantic proximity Read ↗

Microphthalmia and anterior segment dysgenesis due to a double gene variant in GJA8 and CRYGC.Semantic proximity Read ↗

Characterization of a variant of gap junction protein α8 identified in a family with hereditary cataract.Semantic proximity Read ↗

The GJA8 allele encoding CX50I247M is a rare polymorphism, not a cataract-causing mutation.Semantic proximity Read ↗

⌁Select a neighboring publication to make it the new centre.