Discover Community Create You

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

Article

Cx26 deafness: mutation analysis and clinical variability.

Journal of medical genetics - 1 Nov 1999

Murgia A, Orzan E, Polli R, Martella M, Vinanzi C, Leonardi E, Arslan E, Zacchello F

Abstract excerpt

Mutations in the gap junction protein connexin 26 (Cx26) gene (GJB2) seem to account for many cases of congenital sensorineural hearing impairment, the reported prevalence being 34-50% in autosomal recessive cases and 10-37% in sporadic cases. The hearing impairment in these patients has been described as severe or profound. We have studied 53 unrelated subjects with congenital non-syndromic sensorineural hearing...

Read the complete abstract on PubMed

Topics

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

Share to Adolescent
Share to Child
Share to Child, Preschool

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexin 26

Share to Connexins

Share to Deafness

Share to Gap Junctions

Share to Pedigree

Source

Open in PubMed Open full text

Identifiers

PMID: 10544226
PMCID: PMC1734250

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cx26 deafness: mutation analysis and clinical variability.PMID 10544226Read ↗

Molecular genetics applied to clinical practice: the Cx26 hearing impairment.Semantic proximity Read ↗

Connexin 26 deafness is not always congenital.Semantic proximity Read ↗

Connexin 26 mutations in hereditary non-syndromic sensorineural deafness.Semantic proximity Read ↗

Clinical studies of families with hearing loss attributable to mutations in the connexin 26 gene (GJB2/DFNB1)Semantic proximity Read ↗

Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.Semantic proximity Read ↗

Connexin 26 studies in patients with sensorineural hearing loss.Semantic proximity Read ↗

Functional Consequences of Pathogenic Variants of the GJB2 Gene (Cx26) Localized in Different Cx26 Domains.Semantic proximity Read ↗

Connexin 26 mutations in cases of sensorineural deafness in eastern Austria.Semantic proximity Read ↗

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.Semantic proximity Read ↗

A novel compound heterozygous mutation (35delG, 363delC) in the Connexin 26 gene causes non-syndromic autosomal recessive hearing loss.Semantic proximity Read ↗

De novo mutation of the connexin 26 gene associated with dominant non-syndromic sensorineural hearing loss.Semantic proximity Read ↗

Mutations in the connexin26/GJB2 gene are the most common event in non-syndromic hearing loss among the German population.Semantic proximity Read ↗

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