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Article

Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment.

International journal of pediatric otorhinolaryngology - 1 Feb 2006

Tóth Tímea, Pfister Markus, Zenner Hans-Peter, Sziklai Istvan

Abstract excerpt

Only three autosomal dominant hearing loss loci (DFNA1, DFNA6/14/38 and DFNA54) have been reported to be associated with predominantly low-frequency (<2kHz) sensorineural hearing impairment (LFSNHI). The DFNA6 locus was previously mapped to chromosome 4p16.3. It was showed that WFS1 is located in this region. This study presents a six-generation family from Hungary with nonsyndromic, post-lingual, bilateral,...

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Topics

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16043233
DOI: 10.1016/j.ijporl.2005.06.011

Genes

WFS1

Provenance

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

Related research

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Click a neighbor to travelStep 1 · 12 closest

Phenotypic characterization of a DFNA6 family showing progressive low-frequency sensorineural hearing impairment.PMID 16043233Read ↗

[Phenotypic characterization of a DFNA6 family with low-frequency hearing loss].Semantic proximity Read ↗

Autosomal dominant low-frequency hearing impairment (DFNA6/14): a clinical and genetic family study.Semantic proximity Read ↗

Genotype and Phenotype Analyses of a Novel WFS1 Variant (c.2512C>T p.(Pro838Ser)) Associated with DFNA6/14/38.Semantic proximity Read ↗

A gene for autosomal dominant hearing impairment (DFNA14) maps to a region on chromosome 4p16.3 that does not overlap the DFNA6 locus.Semantic proximity Read ↗

Phenotypic characterization of DFNA24: prelingual progressive sensorineural hearing impairment.Semantic proximity Read ↗

Progression of low-frequency sensorineural hearing loss (DFNA6/14-WFS1).Semantic proximity Read ↗

Identification of two novel missense WFS1 mutations, H696Y and R703H, in patients with non-syndromic low-frequency sensorineural hearing loss.Semantic proximity Read ↗

[From gene to disease; non-syndromic, autosomal dominant, low-frequency sensorineural hearing loss (DFNA6/14)].Semantic proximity Read ↗

A novel mutation in the WFS1 gene identified in a Taiwanese family with low-frequency hearing impairment.Semantic proximity Read ↗

A Novel Missense WFS1 Variant: Expanding the Mutational Spectrum Associated with Nonsyndromic Low-Frequency Sensorineural Hearing Loss.Semantic proximity Read ↗

Exome sequencing identifies a novel missense mutation of WFS1 as the cause of non-syndromic low-frequency hearing loss in a Chinese family.Semantic proximity Read ↗

Genetic analysis of patients with low-frequency non-syndromic hearing loss.Semantic proximity Read ↗

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