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

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.

Human molecular genetics - 15 Oct 2001

Bespalova I N, Van Camp G, Bom S J, Brown D J, Cryns K, DeWan A T, Erson A E, Flothmann K, Kunst H P, Kurnool P, Sivakumaran T A, Cremers C W, Leal S M, Burmeister M, Lesperance M M

Abstract excerpt

Non-syndromic low frequency sensorineural hearing loss (LFSNHL) affecting only 2000 Hz and below is an unusual type of hearing loss that worsens over time without progressing to profound deafness. This type of LFSNHL may be associated with mild tinnitus but is not associated with vertigo. We have previously reported two families with autosomal dominant LFSNHL linked to adjacent but non-overlapping loci on 4p16,...

Read the complete abstract on PubMed

Topics

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

Share to Auditory Threshold
Share to Chromosomes, Human, Pair 4

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Family Health

Share to Hearing Loss, Sensorineural

Share to Membrane Proteins

Share to Microsatellite Repeats

Share to Mutation, Missense

Share to Polymorphism, Single-Stranded Conformational

Source

Open in PubMed Open full text

Identifiers

PMID: 11709537
DOI: 10.1093/hmg/10.22.2501
PMCID: PMC6198816

Genes

WFS1

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

Mutations in the Wolfram syndrome 1 gene (WFS1) are a common cause of low frequency sensorineural hearing loss.PMID 11709537Read ↗

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.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 WFS1 mutation in a family with dominant low frequency sensorineural hearing loss with normal VEMP and EcochG findingsSemantic 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 ↗

Mutations in the WFS1 gene that cause low-frequency sensorineural hearing loss are small non-inactivating mutations.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 ↗

Mutations in the Wolfram syndrome type 1 gene (WFS1) define a clinical entity of dominant low-frequency sensorineural hearing loss.Semantic proximity Read ↗

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.Semantic proximity Read ↗

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

Mutations in the WFS1 gene are a frequent cause of autosomal dominant nonsyndromic low-frequency hearing loss in Japanese.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 ↗

[Heterogeneous mutations of Wolfram syndrome I gene responsible for low frequency nonsyndromic hearing loss].Semantic proximity Read ↗

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