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

Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.

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 Jan 2017

Pavithra Amritkumar, Chandru Jayasankaran, Jeffrey Justin Margret, Karthikeyen N P, Srisailapathy C R Srikumari

Abstract excerpt

Connexin 26 (Cx-26), a gap junction protein coded by GJB2 gene, plays a very important role in recycling of potassium ions, one of the vital steps in the mechanotransduction process of hearing. Mutations in the GJB2 gene have been associated with both autosomal recessive as well as dominant nonsyndromic hearing loss. As Cx-26 is linked with skin homeostasis, mutations in this gene are sometimes associated with...

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 Deafness

Share to Genotype

Share to Heterozygote

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 27481527
DOI: 10.1007/s00405-016-4229-5

Genes

GJB2

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

Rare compound heterozygosity involving dominant and recessive mutations of GJB2 gene in an assortative mating hearing impaired Indian family.PMID 27481527Read ↗

Three novel GJB2 (connexin 26) variants associated with autosomal dominant syndromic and nonsyndromic hearing loss.Semantic proximity Read ↗

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

GJB2 mutations are rare in probands with hearing loss in Chinese assortative mating families.Semantic proximity Read ↗

Compound heterozygosity for dominant and recessive GJB2 mutations: effect on phenotype and review of the literature.Semantic proximity Read ↗

Compound heterozygosity of the novel c.292C>T (p.R98W) and the c.35delG GJB2 mutations in postlingual, non-syndromic, sensorineural deafness.Semantic proximity Read ↗

A novel C202F mutation in the connexin26 gene (GJB2) associated with autosomal dominant isolated 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 ↗

Connexin mutations in hearing loss, dermatological and neurological disorders.Semantic proximity Read ↗

Intra-familial phenotypic variability in a Moroccan family with hearing loss and palmoplantar keratoderma (PPK).Semantic proximity Read ↗

Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.Semantic proximity Read ↗

The controversial p.Met34Thr variant in GJB2 gene: Two siblings, one genotype, two phenotypes.Semantic proximity Read ↗

Unusual cutaneous manifestations and congenital hearing loss in a patient with GJB2 (F142L) mutation.Semantic proximity Read ↗

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