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

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.

Gene - 1 Aug 2013

Riahi Zied, Hammami Hassen, Ouragini Houyem, Messai Habib, Zainine Rim, Bouyacoub Yosra, Romdhane Lilia, Essaid Donia, Kefi Rym, Rhimi Mohsen, Bedoui Monia, Dhaouadi Afef, Feldmann Delphine, Jonard Laurence, Besbes Ghazi, Abdelhak Sonia

Abstract excerpt

Hearing loss is the most frequent sensory disorder. It affects 3 in 1000 newborns. It is genetically heterogeneous with 60 causally-related genes identified to date. Mutations in GJB2 gene account for half of all cases of non-syndromic deafness. The aim of this study was to determine the relative frequency of GJB2 allele variants in Tunisia. In this study, we screened 138 patients with congenital hearing loss...

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

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Gene Frequency

Share to Genes, Recessive

Share to Hearing Loss

Share to Infant

Share to Tunisia

Source

Identifiers

PMID: 23680645
DOI: 10.1016/j.gene.2013.04.078

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

Update of the spectrum of GJB2 gene mutations in Tunisian families with autosomal recessive nonsyndromic hearing loss.PMID 23680645Read ↗

Update of the spectrum of GJB2 gene mutations in 152 Moroccan families with autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

A novel frameshift mutation (c.405delC) in the GJB2 gene associated with autosomal recessive hearing loss in two Tunisian families.Semantic proximity Read ↗

GJB2 and GJB6 screening in Tunisian patients with autosomal recessive deafness.Semantic proximity Read ↗

Update of spectrum c.35delG and c.-23+1G>A mutations on the GJB2 gene in individuals with autosomal recessive nonsyndromic hearing loss.Semantic proximity Read ↗

Unraveling the Diversity of GJB2 Mutations in Nonsyndromic Hearing Loss: A Comprehensive Study in the Moroccan Population.Semantic proximity Read ↗

The spectrum of GJB2 mutations in the Iranian population with non-syndromic hearing loss--a twelve year study.Semantic proximity Read ↗

An update of common autosomal recessive non-syndromic hearing loss genes in Iranian population.Semantic proximity Read ↗

Finding mutation within non-coding region of GJB2 reveals its importance in genetic testing of hearing loss in Iranian population.Semantic proximity Read ↗

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.Semantic proximity Read ↗

GJB2 mutations in Iranian Azeri population with autosomal recessive nonsyndromic hearing loss (ARNSHL): First report of c.238 C>A mutation in Iran.Semantic proximity Read ↗

Molecular and genetic characterization of a large Brazilian cohort presenting hearing loss.Semantic proximity Read ↗

Spectrum and frequency of GJB2 mutations causing deafness in the northwest of Iran.Semantic proximity Read ↗

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