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

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.

Clinical genetics - 1 May 2015

Chaussenot A, Rouzier C, Quere M, Plutino M, Ait-El-Mkadem S, Bannwarth S, Barth M, Dollfus H, Charles P, Nicolino M, Chabrol B, Vialettes B, Paquis-Flucklinger V

Abstract excerpt

WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile-onset diabetes mellitus and optic atrophy, and for low-frequency sensorineural hearing loss (LFSNHL). Our aim was to analyze the French cohort of 96 patients with WFS1-related disorders in order (i) to update clinical and molecular data with 37 novel affected individuals, (ii) to describe uncommon phenotypes and, (iii) to precise...

Read the complete abstract on PubMed

Topics

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

Share to Amino Acid Substitution
Share to Cohort Studies

Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

Share to Family

Share to France

Share to Genes, Dominant

Share to Genes, Recessive

Share to Membrane Proteins

Share to Wolfram Syndrome

Source

Identifiers

PMID: 24890733
DOI: 10.1111/cge.12437

Genes

WFS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

Related research

Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

Research trail→

Click a neighbor to travelStep 1 · 12 closest

Mutation update and uncommon phenotypes in a French cohort of 96 patients with WFS1-related disorders.PMID 24890733Read ↗

Patients with a Wide Range of Disorders Related to WFS1 Gene Variants: Novel Mutations and Genotype-Phenotype Correlations.Semantic proximity Read ↗

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

Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome.Semantic proximity Read ↗

Molecular detection of novel WFS1 mutations in patients with Wolfram syndrome by a DHPLC-based assay.Semantic proximity Read ↗

Clinical and genetic analysis of two wolfram syndrome families with high occurrence of wolfram syndrome and diabetes type II: a case report.Semantic proximity Read ↗

Wolfram syndrome in French population: characterization of novel mutations and polymorphisms in the WFS1 gene.Semantic proximity Read ↗

Identification of novel mutations of the WFS1 gene in Brazilian patients with Wolfram syndrome.Semantic proximity Read ↗

Clinical and molecular genetic analysis of 19 Wolfram syndrome kindreds demonstrating a wide spectrum of mutations in WFS1.Semantic proximity Read ↗

Natural history of 15 patients with autosomal dominant WFS1 pathogenic variants associated with sensorineural hearing loss and optic atrophySemantic proximity Read ↗

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

WFS1 mutations in Spanish patients with diabetes mellitus and deafness.Semantic proximity Read ↗

A novel WFS1 variant associated with severe diabetic retinopathy in Wolfram syndrome type 1.Semantic proximity Read ↗

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