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

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.

International journal of pediatric otorhinolaryngology - 1 Jun 2012

Ben Said Mariem, Dhouib Houria, BenZina Zeineb, Ghorbel Abdelmoneem, Moreno Felipe, Masmoudi Saber, Ayadi Hammadi, Hmani-Aifa Mounira

Abstract excerpt

OBJECTIVE: Recessive mutations of the SLC26A4 (PDS) gene on chromosome 7q31 can cause sensorineural hearing loss with goiter (Pendred syndrome) or non-syndromic autosomal recessive hearing loss (DFNB4). Furthermore, mutations in the GJB2 gene results in autosomal recessive (DFNB1) and dominant (DFNA3) non-syndromic hearing loss. The aim of the present study was to characterize a family with Pendred syndrome...

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 Consanguinity

Share to Goiter, Nodular

Share to Hearing Loss, Sensorineural

Share to Membrane Transport Proteins

Share to Sulfate Transporters

Share to Tunisia

Source

Identifiers

PMID: 22429511
DOI: 10.1016/j.ijporl.2012.02.053

Genes

GJB2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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

Segregation of a new mutation in SLC26A4 and p.E47X mutation in GJB2 within a consanguineous Tunisian family affected with Pendred syndrome.PMID 22429511Read ↗

Novel mutations in the SLC26A4 gene.Semantic proximity Read ↗

Pendred syndrome in Tunisia.Semantic proximity Read ↗

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

Two missense mutations in SLC26A4 gene: a molecular and functional study.Semantic proximity Read ↗

Identification of SLC26A4 gene mutations in Iranian families with hereditary hearing impairment.Semantic proximity Read ↗

Clinical heterogeneity of the SLC26A4 gene in UAE patients with hearing loss and bioinformatics investigation of DFNB4/Pendred syndrome missense mutations.Semantic proximity Read ↗

Intrafamilial variability of the deafness and goiter phenotype in Pendred syndrome caused by a T416P mutation in the SLC26A4 gene.Semantic proximity Read ↗

Autosomal recessive and sporadic deafness in Morocco: high frequency of the 35delG GJB2 mutation and absence of the 342-kb GJB6 variant.Semantic proximity Read ↗

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

Mutation analysis of SLC26A4 (Pendrin) gene in a Brazilian sample of hearing-impaired subjects.Semantic proximity Read ↗

Genetic Heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB Variants Detected Among Hearing Impaired Families in MoroccoSemantic proximity Read ↗

Genetic architecture and phenotypic landscape of SLC26A4-related hearing loss.Semantic proximity Read ↗

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