Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy. [PDF]
Clin GenetOpticus atrophy—Genetic testing with WES/WGS in 62 patients with optic atrophy provided a genetic diagnosis in 21 patients (33.9%). 42.9% of these involved non‐OPA1 genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2, where the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention.
Johannesen KM +9 more
europepmc +2 more sources
Identification of a Novel WFS1 Mutation Using the Whole Exome Sequencing in an Iranian Pedigree with Autosomal Dominant Hearing Loss [PDF]
Iranian Journal of Otorhinolaryngology, 2021 Introduction: Sensorineural hearing loss is the most frequent type of hearing impairment in the human population. Genetic factors account for over 60% of hearing loss in patients. This is a genetically heterogeneous sensorineural disorder. Case Report:
Javad Mohammadi Asl +4 more
doaj +1 more source
A p.Val412Serfs pathogenic variant associated with Wolfram-like syndrome and leukodystrophy
The Egyptian Journal of Neurology, Psychiatry and Neurosurgery, 2023 Background Wolfram syndrome is due to a mutation of the WFS1 gene that codes for the transmembrane protein wolframin. This protein is located in the endoplasmic reticulum and is expressed at higher concentrations in the beta cells of pancreatic islets ...
Ayca Kocaaga +2 more
doaj +1 more source
Wolfram syndrome 1 regulates sleep in dopamine receptor neurons by modulating calcium homeostasis.
PLoS Genetics, 2023 Sleep disruptions are quite common in psychological disorders, but the underlying mechanism remains obscure. Wolfram syndrome 1 (WS1) is an autosomal recessive disease mainly characterized by diabetes insipidus/mellitus, neurodegeneration and ...
Huanfeng Hao, Li Song, Luoying Zhang
doaj +1 more source
BMC Medical Genetics, 2020 Background Mutations of the WFS1 gene are responsible for most cases of Wolfram syndrome (WS), a rare, recessively inherited neurodegenerative disorder characterized by juvenile-onset non-autoimmune diabetes mellitus and optic atrophy.
Maryam Sobhani +6 more
doaj +1 more source
Loss of Function of WFS1 Causes ER Stress-Mediated Inflammation in Pancreatic Beta-Cells
Frontiers in Endocrinology, 2022 Wolfram syndrome is a rare genetic disorder characterized by juvenile-onset diabetes mellitus, optic nerve atrophy, hearing loss, diabetes insipidus, and progressive neurodegeneration.
Shuntaro Morikawa +5 more
doaj +1 more source
BMC Medical Genomics, 2023 Background Wolfram syndrome type 1 gene (WFS1), which encodes a transmembrane structural protein (wolframin), is essential for several biological processes, including proper inner ear function.
Hui Dong Lim +6 more
doaj +1 more source
Valproate, a mood stabilizer, induces WFS1 expression and modulates its interaction with ER stress protein GRP94. [PDF]
PLoS ONE, 2009 Valproate is a standard treatment for bipolar disorder and a first-line mood stabilizer. The molecular mechanisms underlying its actions in bipolar disorder are unclear.
Chihiro Kakiuchi +5 more
doaj +1 more source
Polymorphisms in wolframin (WFS1) gene are possibly related to increased risk for mood disorders [PDF]
, 2004 Wolfram syndrome gene (WFS1) has been suggested to have a role in the susceptibility for mood disorders. A 26-fold increased risk for psychiatric disorders in WFS1 mutation carriers has been sug- gested.
Heinaste, Evelin +13 more
core +1 more source
RNA-sequencing of WFS1-deficient pancreatic islets [PDF]
, 2016 Wolfram syndrome, an autosomal recessive disorder characterized by juvenile-onset diabetes mellitus and optic atrophy, is caused by mutations in the WFS1 gene. WFS1 encodes an endoplasmic reticulum resident transmembrane protein.
Ivask, M. +5 more
core +1 more source