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

A novel connexin 26 compound heterozygous mutation results in deafness.

The Laryngoscope - 1 Jul 2002

Harris Kevin C, Erbe Christy B, Firszt Jill B, Flanary Valerie A, Wackym Phillip A

Abstract excerpt

OBJECTIVE: Mutations of the gap junction beta 2 (GJB2) gene coding for the protein connexin 26 account for up to 50% of nonsyndromic sensorineural hearing loss (NSHL), with specific mutations associated with distinct ethnic groups. A biracial family with nonsyndromic sensorineural deafness consistent with autosomal recessive inheritance was examined for connexin 26 (Cx26) mutations. STUDY DESIGN: Prospective...

Read the complete abstract on PubMed

Topics

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

Share to Child
Share to Child, Preschool
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Deafness

Share to Heterozygote

Share to Mutation

Share to Pedigree

Source

Identifiers

PMID: 12169891
DOI: 10.1097/00005537-200207000-00003

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

A novel connexin 26 compound heterozygous mutation results in deafness.PMID 12169891Read ↗

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

Connexin26 mutations associated with nonsyndromic hearing loss.Semantic proximity Read ↗

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

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

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

Hearing loss associated with an unusual mutation combination in the gap junction beta 2 (GJB2) gene in a Chinese family.Semantic proximity Read ↗

Connexin-26 mutations in deafness and skin disease.Semantic proximity Read ↗

Novel mutations in the connexin 26 gene (GJB2) responsible for childhood deafness in the Japanese population.Semantic proximity Read ↗

Connexin26 gene ( GJB2): prevalence of mutations in the Chinese population.Semantic proximity Read ↗

Mutation analysis of GJB2 and GJB6 genes in Southeastern Brazilians with hereditary nonsyndromic deafness.Semantic proximity Read ↗

Mutation spectrum of the connexin 26 (GJB2) gene in Taiwanese patients with prelingual deafness.Semantic proximity Read ↗

Connexin-26 gene analysis in hearing-impaired newborns.Semantic proximity Read ↗

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