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

The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants.

International journal of pediatric otorhinolaryngology - 1 May 2016

Chen Wen-Xia, Huang Yue, Yang Xiao-Lin, Duan Bo, Lu Ping, Wang Yan, Xu Zheng-Min

Abstract excerpt

The gap junction β2 (GJB2) gene is associated with more than half of the recessive forms of hereditary hearing loss (HHL). However, the correlation between p.V27I and p.E114G variants of GJB2 and hearing phenotype remains controversial. This study aimed to clarify possible roles of these variants in Chinese infants with nonsyndromic hearing loss (NSHL). Hearing and gene tests were conducted in 300 infants (aged...

Read the complete abstract on PubMed

Topics

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

Share to China
Share to Connexin 26

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Connexins

Share to Deafness

Share to Genetic Markers

Share to Hearing Loss, Sensorineural

Share to Homozygote

Share to Infant, Newborn

Source

Identifiers

PMID: 27063752
DOI: 10.1016/j.ijporl.2016.02.024

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

The homozygote p.V27I/p.E114G variant of GJB2 is a putative indicator of nonsyndromic hearing loss in Chinese infants.PMID 27063752Read ↗

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

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

The homozygous p. V37I variant of GJB2 is associated with diverse hearing phenotypesSemantic proximity Read ↗

Genotype-phenotype correlation of two prevalent GJB2 mutations in Chinese newborn infants ascertained from the Universal Newborn Hearing Screening Program.Semantic proximity Read ↗

GJB2 mutation spectrum in 2,063 Chinese patients with nonsyndromic hearing impairment.Semantic proximity Read ↗

[Clinical hearing phenotypes analysis of GJB2 gene p.V37I homozygote and compound heterozygote mutation in infants].Semantic proximity Read ↗

The p.V37I exclusive genotype of GJB2: a genetic risk-indicator of postnatal permanent childhood hearing impairment.Semantic proximity Read ↗

GJB2 p.V37I Mutation Associated With Moderate Nonsyndromic Hearing Loss in an Adult Taiwanese Population.Semantic proximity Read ↗

[Hearing loss associated with GJB2 gene mutation].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 ↗

Genetic Factors Contribute to the Phenotypic Variability in GJB2-Related Hearing Impairment.Semantic proximity Read ↗

Analysis of GJB2 gene mutations spectrum and the characteristics of individuals with c.109G>A in Western Guangdong.Semantic proximity Read ↗

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