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

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

Acta oto-laryngologica - 1 Nov 2005

Noguchi Yoshihiro, Yashima Takatoshi, Hatanaka Akio, Uzawa Masamichi, Yasunami Michio, Kimura Akinori, Kitamura Ken

Abstract excerpt

CONCLUSION: Our findings suggest that Wolfram syndrome type 1 gene (WFS1) mutation is an important cause of autosomal dominant low-frequency sensorineural hearing loss (LFSNHL) in Japan. OBJECTIVE: DFNA6/14 is caused by a heterozygous mutation of WFS1 and is a common cause of autosomal dominant LFSNHL among populations in both Europe and the US. The purpose of this study was to investigate WFS1 mutations among...

Read the complete abstract on PubMed

Topics

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

Share to Alanine
Share to Auditory Threshold

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Deafness

Share to Genetic Carrier Screening

Share to Hearing Loss, Sensorineural

Share to Hearing Tests

Share to Threonine

Share to Wolfram Syndrome

Source

Identifiers

PMID: 16353398
DOI: 10.1080/00016480510044232

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

A mutation in Wolfram syndrome type 1 gene in a Japanese family with autosomal dominant low-frequency sensorineural hearing loss.PMID 16353398Read ↗

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

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 ↗

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

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

[Research progress of mutational spectrum and pathophysiology of WFS1 gene in Wolfram syndrome and nonsyndromic 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 ↗

Two families with nonsyndromic low-frequency hearing loss harbor novel mutations in Wolfram syndrome gene 1.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 ↗

Additional heterozygous 2507A>C mutation of WFS1 in progressive hearing loss at lower frequencies.Semantic proximity Read ↗

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