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

Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery - 1 Aug 2015

Salman Midhat, Bashir Rasheeda, Imtiaz Ayesha, Maqsood Azra, Mujtaba Ghulam, Iqbal Muddassar, Naz Sadaf

Abstract excerpt

Mutations of GJB2 which encode connexin 26, contribute to 6-7 % of profound deafness in Pakistan. We investigated the involvement of GJB2 mutations in a cohort of 84 pedigrees and 86 sporadic individuals with moderate or severe hearing loss. Individuals in eight consanguineous families and four sporadic cases (9.52 and 4.65 %, respectively) were homozygous or compound heterozygous for p.W24X or p.W77X mutations...

Read the complete abstract on PubMed

Topics

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

Share to Connexin 26
Share to Connexins

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Hearing Loss

Share to Heterozygote

Share to Homozygote

Share to Pakistan

Share to Pedigree

Share to Severity of Illness Index

Source

Open in PubMed Open full text

Identifiers

PMID: 25636251
DOI: 10.1007/s00405-015-3523-y
PMCID: PMC4475449

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

Mutations of GJB2 encoding connexin 26 contribute to non-syndromic moderate and severe hearing loss in Pakistan.PMID 25636251Read ↗

Contribution of GJB2 mutations to hearing loss in the Hazara Division of Pakistan.Semantic proximity Read ↗

Disease-associated variants of Gap Junction Beta 2 protein (GJB2) in the deaf population of Southern Punjab of Pakistan.Semantic proximity Read ↗

Low prevalence of Connexin 26 (GJB2) variants in Pakistani families with autosomal recessive non-syndromic hearing impairment.Semantic proximity Read ↗

Genetic studies identify known and novel variants for recessively inherited moderate to severe hearing loss in consanguineous families from Pakistan.Semantic proximity Read ↗

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

High frequency of connexin26 (GJB2) mutations associated with nonsyndromic hearing loss in the population of Kerala, India.Semantic proximity Read ↗

Contribution of connexin26 (GJB2) mutations and founder effect to non-syndromic hearing loss in India.Semantic proximity Read ↗

Molecular genetic landscape of hereditary hearing loss in Pakistan.Semantic proximity Read ↗

A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.Semantic proximity Read ↗

Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohortSemantic proximity Read ↗

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

Connexin 26 (GJB2) Gene Mutations Linked With Autosomal Recessive Nonsyndromic Sensorineural Hearing Loss in Iraqi Population.Semantic proximity Read ↗

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