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Article

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.

American journal of medical genetics. Part A - 15 Nov 2006

Huculak C, Bruyere H, Nelson T N, Kozak F K, Langlois S

Abstract excerpt

Sensorineural hearing loss (SNHL) is the most common inherited sensory disorder, reported in 1-3 of every 1,000 births. It has been estimated that 50% of all cases of prelingual SNHL are genetically determined. There is tremendous genetic heterogeneity, with multiple dominant and recessive loci. Mutations of the gap junction beta-2 gene (GJB2) emerge as a leading cause of autosomal recessive non-syndromic SNHL....

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 17036313
DOI: 10.1002/ajmg.a.31486

Genes

GJB2

Provenance

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Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

V37I connexin 26 allele in patients with sensorineural hearing loss: evidence of its pathogenicity.PMID 17036313Read ↗

Homozygosity for the V37I GJB2 mutation in fifteen probands with mild to moderate sensorineural hearing impairment: further confirmation of pathogenicity and haplotype analysis in Asian populations.Semantic proximity Read ↗

Prevalence of p.V37I variant of GJB2 in mild or moderate hearing loss in a pediatric population and the interpretation of its pathogenicity.Semantic proximity Read ↗

Efficacy of Connexin testing in detecting Non-syndromic Sensorineural Hearing Loss in an Indian cohortSemantic proximity Read ↗

The congenital hearing phenotype in GJB2 in Queensland, Australia: V37I and mild hearing loss predominatesSemantic proximity Read ↗

Natural history and phenotype-genotype correlations in GJB2-related hearing loss: a systematic and comprehensive review.Semantic proximity Read ↗

GJB2 (connexin 26) variants and nonsyndromic sensorineural hearing loss: a HuGE review.Semantic proximity Read ↗

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

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

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

Unusual phenotype in 35delG mutation: a case report.Semantic proximity Read ↗

Connexin26 mutations associated with nonsyndromic hearing loss.Semantic proximity Read ↗

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