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

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.

American journal of medical genetics. Part A - 1 Sept 2008

Hildebrand Michael S, Sorensen Jessica L, Jensen Maren, Kimberling William J, Smith Richard J H

Abstract excerpt

Most familial cases of autosomal dominant low frequency sensorineural hearing loss (LFSNHL) are attributable to mutations in the wolframin syndrome 1 (WFS1) gene at the DFNA6/14/38 locus. WFS1 mutations at this locus were first described in 2001 in six families segregating LFSNHL that was non-progressive below 2,000 Hz; the causative mutations all clustered in the C-terminal domain of the wolframin protein....

Read the complete abstract on PubMed

Topics

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

Share to Autoimmune Diseases
Share to Crohn Disease

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to DNA Mutational Analysis

Share to Graves Disease

Share to Hearing Loss, Sensorineural

Share to Membrane Proteins

Share to Mutation, Missense

Share to Wolfram Syndrome

Source

Open in PubMed Open full text

Identifiers

PMID: 18688868
DOI: 10.1002/ajmg.a.32449
PMCID: PMC2586182

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

Autoimmune disease in a DFNA6/14/38 family carrying a novel missense mutation in WFS1.PMID 18688868Read ↗

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

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

Mutational spectrum of the WFS1 gene in Wolfram syndrome, nonsyndromic hearing impairment, diabetes mellitus, and psychiatric disease.Semantic proximity Read ↗

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

Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified.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 ↗

Non-syndromic progressive hearing loss DFNA38 is caused by heterozygous missense mutation in the Wolfram syndrome gene WFS1.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 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 ↗

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

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