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

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.

International journal of audiology - 1 Jan 2009

Cama Elona, Melchionda Salvatore, Palladino Teresa, Carella Massimo, Santarelli Rosamaria, Genovese Elisabetta, Benettazzo Filippo, Zelante Leopoldo, Arslan Edoardo

Abstract excerpt

The aim of this study was to describe the clinical features of hearing loss due to mutations on connexin 26/30 coding genes (GJB2/GJB6). Mutations in the GJB2 gene are found to account for approximately 50% of cases of autosomal recessive non-syndromic deafness. Several European studies have estimated that the GJB2 healthy carrier condition involves about 2-4% of the population, with the 35delG mutations being...

Read the complete abstract on PubMed

Topics

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

Share to Audiometry, Pure-Tone
Share to Auditory Perception

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexin 26

Share to Connexin 30

Share to Connexins

Share to Hearing Loss, Sensorineural

Share to Inheritance Patterns

Source

Identifiers

PMID: 19173109
DOI: 10.1080/14992020802400654

Genes

GJB2
GJB6

Variants

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

Hearing loss features in GJB2 biallelic mutations and GJB2/GJB6 digenic inheritance in a large Italian cohort.PMID 19173109Read ↗

Analysis of the GJB2 and GJB6 genes in Italian patients with nonsyndromic hearing loss: frequencies, novel mutations, genotypes, and degree of hearing loss.Semantic proximity Read ↗

Prevalence of GJB2 (connexin-26) and GJB6 (connexin-30) mutations in a cohort of 300 Brazilian hearing-impaired individuals: implications for diagnosis and genetic counseling.Semantic proximity Read ↗

Digenic inheritance in autosomal recessive non-syndromic hearing loss cases carrying GJB2 heterozygote mutations: assessment of GJB4, GJA1, and GJC3.Semantic proximity Read ↗

Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.Semantic proximity Read ↗

GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients.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 ↗

Spectrum of GJB2 (Cx26) gene mutations in Iranian Azeri patients with nonsyndromic autosomal recessive hearing loss.Semantic proximity Read ↗

GJB2 mutations in hearing impairment: identification of a broad clinical spectrum for improved genetic counseling.Semantic proximity Read ↗

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominatesSemantic proximity Read ↗

Prevalence of DFNB1 mutations in Argentinean children with non-syndromic deafness. Report of a novel mutation in GJB2.Semantic proximity Read ↗

A study of GJB2 and delGJB6-D13S1830 mutations in Brazilian non-syndromic deaf children from the Amazon region.Semantic proximity Read ↗

GJB2 (Connexin 26) gene mutations among hearing-impaired persons in a Swedish cohort.Semantic proximity Read ↗

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