RGD Reference Report - WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims. - Rat Genome Database

Send us a Message
Submit Data |  Help |  Video Tutorials |  News |  Publications |  Download |  REST API |  Citing RGD |  Contact   
Search RGD Grant Resources Citing RGD About Us Contact Us
Genes Variants Community Projects QTLs Strains Markers Genome Information Ontologies Cell Lines References Download Submit Data
OntoMate (Literature Search) JBrowse (Genome Browser) Synteny Browser (VCMap) Variant Visualizer Multi-Ontology Enrichment (MOET) Gene-Ortholog Location Finder (GOLF) InterViewer (Protein-Protein Interactions) PhenoMiner (Quatitative Phenotypes) Gene Annotator OLGA (Gene List Generator) AllianceMine GViewer (Genome Viewer)
Aging & Age-Related Disease Cancer & Neoplastic Disease Cardiovascular Disease Coronavirus Disease Developmental Disease Diabetes Hematologic Disease Immune & Inflammatory Disease Infectious Disease Liver Disease Neurological Disease Obesity & Metabolic Syndrome Renal Disease Respiratory Disease Sensory Organ Disease
Find Models   new Genetic Models Autism Models Rat PhenoMiner (Quantitative Phenotypes) Chinchilla PhenoMiner Expected Ranges (Quantitative Phenotype) PhenoMiner Term Comparison Hybrid Rat Diversity Panel Phenotypes Phenotypes in Other Animal Models Animal Husbandry Strain Medical Records Phylogenetics Strain Availability Calendar Rats 101 Submissions Photo Archive
Pathways
Rat Community Forum Directory of Rat Laboratories Video Tutorials News RGD Publications RGD Presentations Archive Nomenclature Guidelines Resource Links Laboratory Resources Employment Resources

WFS1 variants in Finnish patients with diabetes mellitus, sensorineural hearing impairment or optic atrophy, and in suicide victims.

Authors: Kytovuori, L  Seppanen, A  Martikainen, MH  Moilanen, JS  Kamppari, S  Sarkioja, T  Remes, AM  Rasanen, P  Ronnemaa, T  Majamaa, K 
Citation: Kytovuori L, etal., J Hum Genet. 2013 Aug;58(8):495-500. doi: 10.1038/jhg.2013.29. Epub 2013 Apr 18.
RGD ID: 8694404
Pubmed: PMID:23595122   (View Abstract at PubMed)
DOI: DOI:10.1038/jhg.2013.29   (Journal Full-text)

Mutations in the wolframin gene, WFS1, cause Wolfram syndrome, a rare recessive neurodegenerative disorder. The clinical features include early-onset bilateral optic atrophy (OA), diabetes mellitus (DM), diabetes insipidus, hearing impairment, urinary tract abnormalities and psychiatric illness, and, furthermore, WFS1 variants appear to be associated with non-syndromic DM and hearing impairment. Variation of WFS1 was investigated in Finnish subjects consisting 182 patients with DM, 117 patients with sensorineural hearing impairment (SNHI) and 44 patients with OA, and in 95 suicide victims. Twenty-two variants were found in the coding region of WFS1, including three novel nonsynonymous variants. The frequency of the p.[His456] allele was significantly higher in the patients with SNHI (11.5%; corrected P=0.00008), DM (6.6%; corrected P=0.036) or OA (9.1%; corrected P=0.043) than that in the 285 controls (3.3%). The frequency of the p.[His611] allele was 55.8% in the patients with DM being higher than that in the controls (47%; corrected P=0.039). The frequencies of p.[His456] and p.[His611] were similarly increased in an independent group of patients with DM (N=299). The results support previous findings that genetic variation of WFS1 contributes to the risk of DM and SNHI.

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
diabetes mellitus  IAGP 8694404DNA:missense mutations:cds:p.R456H more ...RGD 
diabetes mellitus  ISOWFS1 (Homo sapiens)8694404; 8694404DNA:missense mutations:cds:p.R456H more ...RGD 
optic atrophy  IAGP 8694404DNA:missense mutation:cds:p.R456H (rs1801206) (human)RGD 
optic atrophy  ISOWFS1 (Homo sapiens)8694404; 8694404DNA:missense mutation:cds:p.R456H (rs1801206) (human)RGD 
sensorineural hearing loss  IAGP 8694404DNA:missense mutation:cds:p.R456H (rs1801206) (human)RGD 
sensorineural hearing loss  ISOWFS1 (Homo sapiens)8694404; 8694404DNA:missense mutation:cds:p.R456H (rs1801206) (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
Optic atrophy  IAGP 8694404DNA:missense mutation:cds:p.R456H (rs1801206)RGD 
Objects Annotated

Genes (Rattus norvegicus)
Wfs1  (wolframin ER transmembrane glycoprotein)

Genes (Mus musculus)
Wfs1  (wolframin ER transmembrane glycoprotein)

Genes (Homo sapiens)
WFS1  (wolframin ER transmembrane glycoprotein)


Additional Information