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

High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).

General physiology and biophysics - 1 Dec 2003

Minárik G, Ferák V, Feráková E, Ficek A, Poláková H, Kádasi L

Abstract excerpt

Mutations in the GJB2 gene (connexin 26) represent a major cause of autosomal recessive non-syndromic hearing loss (NSHL) worldwide. In most Caucasian populations, the 35delG mutation in this gene was found to account for up to 50% of cases of the genetic non-syndromic childhood deafness. In populations of non-European ethnic background, other GJB2 gene mutations are occasionally common, e.g. 167delT in Ashkenazi...

Read the complete abstract on PubMed

Topics

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

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Dominant

Share to Hearing Loss, Sensorineural

Share to Slovakia

Share to Syndrome

Source

Identifiers

PMID: 15113126

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

High frequency of GJB2 mutation W24X among Slovak Romany (Gypsy) patients with non-syndromic hearing loss (NSHL).PMID 15113126Read ↗

High prevalence of the W24X mutation in the gene encoding connexin-26 (GJB2) in Spanish Romani (gypsies) with autosomal recessive non-syndromic hearing loss.Semantic proximity Read ↗

Frequencies of two common mutations (c.35delG and c.167delT) of the connexin 26 gene in different populations of Hungary.Semantic proximity Read ↗

Prevalence of the c.35delG and p.W24X mutations in the GJB2 gene in patients with nonsyndromic hearing loss from North-West Romania.Semantic proximity Read ↗

Prevalence of DFNB1 mutations in Slovak patients with non-syndromic hearing loss.Semantic proximity Read ↗

Lower carrier rate of GJB2 W24X ancestral Indian mutation in Roma samples from Hungary: implication for public health intervention.Semantic proximity Read ↗

Spectrum of genetic changes in patients with non-syndromic hearing impairment and extremely high carrier frequency of 35delG GJB2 mutation in Belarus.Semantic proximity Read ↗

Carrier rates of the ancestral Indian W24X mutation in GJB2 in the general Gypsy population and individual subisolates.Semantic proximity Read ↗

GJB2 mutations in Turkish patients with ARNSHL: prevalence and two novel mutations.Semantic proximity Read ↗

The high frequency of GJB2 gene mutation c.313_326del14 suggests its possible origin in ancestors of Lithuanian population.Semantic proximity Read ↗

Prevalence of mutations located at the dfnb1 locus in a population of cochlear implanted children in eastern Romania.Semantic proximity Read ↗

Population-Specific Mutational Spectrum of Autosomal Recessive Nonsyndromic Hearing Loss in Croatian Roma: Implications for Clinical Genetics.Semantic proximity Read ↗

Screening of families with autosomal recessive non-syndromic hearing impairment (ARNSHI) for mutations in GJB2 gene: Indian scenario.Semantic proximity Read ↗

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