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 new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.

International journal of pediatric otorhinolaryngology - 1 Apr 2015

Keivani Azadeh, Haghighat-Nia Asieh, Fazel-Najafabadi Esmat, Hosseinzadeh Majid, Salehi Mansoor

Abstract excerpt

OBJECTIVE: To investigate mutations in GJB2 in a consanguineous Iranian family with multiple members affected by non-syndromic hearing loss. METHODS: DNA was extracted from blood samples and the coding region of the conexin 26 gene was amplified using PCR. Bidirectional sequencing was carried out on PCR products. RESULTS: Direct sequencing of the PCR products led to the identification of a novel compound...

Read the complete abstract on PubMed

Topics

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

Share to Cohort Studies
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Consanguinity

Share to Deafness

Share to Heterozygote

Share to Homozygote

Source

Identifiers

PMID: 25708704
DOI: 10.1016/j.ijporl.2015.01.027

Genes

GJB2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A new compound heterozygous mutation in GJB2 causes nonsyndromic hearing loss in a consanguineous Iranian family.PMID 25708704Read ↗

GJB2 mutations in Iranians with autosomal recessive non-syndromic sensorineural hearing loss.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 ↗

Unveiling a novel GJB2 dominant K22T mutation in a Chinese family with hearing loss.Semantic proximity Read ↗

GJB2 Mutation Spectrum and Genotype-Phenotype Correlation in 1067 Han Chinese Subjects with Non-Syndromic Hearing Loss.Semantic proximity Read ↗

Prevalence of GJB2 (CX26) gene mutations in south Iranian patients with autosomal recessive nonsyndromic sensorineural hearing loss.Semantic proximity Read ↗

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

Update of the spectrum of GJB2 mutations in 107 patients with nonsyndromic hearing loss in the Fujian population of China.Semantic proximity Read ↗

Bioinformatic Analysis of GJB2 Gene Missense Mutations.Semantic proximity Read ↗

Identification of novel gene variants causing autosomal recessive non-syndromic hearing loss in Iranian familiesSemantic proximity Read ↗

Mutation analysis of familial GJB2-related deafness in Iranian Azeri Turkish patients.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 ↗

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