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

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

International journal of pediatric otorhinolaryngology - 1 Apr 2018

Koohiyan Mahbobeh, Hashemzadeh-Chaleshtori Morteza, Salehi Mansoor, Abtahi Hamidreza, Reiisi Somayeh, Pourreza Mohammad Reza, Noori-Daloii Mohammad Reza, Tabatabaiefar Mohammad Amin

Abstract excerpt

OBJECTIVE: Hereditary hearing loss (HL) is a noticeable concern in medicine all over the world. On average, 1 in 166 babies born are diagnosed with HL in Iran, which makes it a major public health issue. Autosomal recessive non-syndromic HL (ARNSHL) is the most prevalent form of HL. Although over 60 genes have been identified for ARNSHL, GJB2 mutations are the most prevalent causes of ARNSHL in many populations....

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 Delete account & data About Contact Helena Bioinformatics

Share to Connexins

Share to Deafness

Share to Heterozygote

Share to Homozygote

Share to Multiplex Polymerase Chain Reaction

Source

Identifiers

PMID: 29501291
DOI: 10.1016/j.ijporl.2018.01.012

Genes

GJB2
GJB6

Variants

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. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

GJB2 mutations causing autosomal recessive non-syndromic hearing loss (ARNSHL) in two Iranian populations: Report of two novel variants.PMID 29501291Read ↗

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

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

Common mutation analysis of GJB2 and GJB6 genes in affected families with autosomal recessive non-syndromic hearing loss from Iran: simultaneous detection of two common mutations (35delG/del(GJB6-D13S1830)) in the DFNB1-related deafness.Semantic proximity Read ↗

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

Heterogeneity of Hereditary Hearing Loss in Iran: a Comprehensive Review.Semantic proximity Read ↗

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

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

Epidemiology, etiology, genetic variants in non- syndromic hearing loss in Iran: A systematic review and meta-analysis.Semantic proximity Read ↗

Mutation spectrum of autosomal recessive non-syndromic hearing loss in central Iran.Semantic proximity Read ↗

GJB2 mutations: passage through Iran.Semantic proximity Read ↗

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