Generation of induced pluripotent stem cells (IBMSi027-A) from a patient with hearing loss carrying WFS1 c.2051C > T (p.Ala684Val) variant
Stem Cell Res. 2023 Mar 16;69:103068. doi: 10.1016/j.scr.2023.103068. Online ahead of print. ABSTRACT Pathogenic variants of the WFS1 gene can cause recessive-inherited Wolfram syndrome or dominant-inherited Wolfram-like syndrome with optic atrophy and hearing impairment. Using the Sendai virus delivery system, we generated induced pluripotent stem cells from the peripheral blood mononuclear cells of a female […]
Treatment of autoimmunity: The impact of disease-modifying therapies in multiple sclerosis and comorbid autoimmune disorders
Autoimmun Rev. 2023 Mar 14:103312. doi: 10.1016/j.autrev.2023.103312. Online ahead of print. ABSTRACT More than 10 disease-modifying therapies (DMT) are approved by the European Medicines Agency (EMA) and the US Food and Drug Administration (FDA) for the treatment of multiple sclerosis (MS) and new therapeutic options are on the horizon. Due to different underlying therapeutic mechanisms, […]
WFS1 Spectrum Disorder
2009 Feb 24 [updated 2022 Dec 1]. In: Adam MP, Everman DB, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2023. ABSTRACT CLINICAL CHARACTERISTICS: WFS1 spectrum disorder (WFS1-SD) comprises classic WFS1 spectrum disorder and nonclassic WFS1 spectrum disorder. Classic WFS1-SD, a progressive […]
Morphological, behavioral and cellular analyses revealed different phenotypes in Wolfram syndrome wfs1a and wfs1b zebrafish mutant lines
Hum Mol Genet. 2022 Aug 23;31(16):2711-2727. doi: 10.1093/hmg/ddac065. ABSTRACT Wolfram syndrome (WS) is a rare genetic disease characterized by diabetes, optic atrophy and deafness. Patients die at 35 years of age, mainly from respiratory failure or dysphagia. Unfortunately, there is no treatment to block the progression of symptoms and there is an urgent need for […]
Genetic protocol in primary care for rare diseases: Wolfram syndrome as a prototype
Aten Primaria. 2022 May;54(5):102285. doi: 10.1016/j.aprim.2022.102285. Epub 2022 Mar 16. ABSTRACT Rare diseases, despite their individual low frequency, affect 7% of the population all combined. Consequently, every primary care practitioner (PCP) will have several of these patients under his care. 80% of rare diseases are genetically determined, which makes genetic counseling fundamental in these cases. […]
Wolframin deficiency is accompanied with metabolic inflexibility in rat striated muscles
Biochem Biophys Rep. 2022 Mar 12;30:101250. doi: 10.1016/j.bbrep.2022.101250. eCollection 2022 Jul. ABSTRACT The protein wolframin is localized in the membrane of the endoplasmic reticulum (ER), influencing Ca2+ metabolism and ER interaction with mitochondria, but the exact role of the protein remains unclear. Mutations in Wfs1 gene cause autosomal recessive disorder Wolfram syndrome (WS). The first […]
Plasma Neurofilament Light Chain Levels Are Elevated in Children and Young Adults With Wolfram Syndrome
Front Neurosci. 2022 Apr 12;16:795317. doi: 10.3389/fnins.2022.795317. eCollection 2022. ABSTRACT Wolfram syndrome is a rare disease caused by pathogenic variants in the WFS1 gene with progressive neurodegeneration. As an easily accessible biomarker of progression of neurodegeneration has not yet been found, accurate tracking of the neurodegenerative process over time requires assessment by costly and time-consuming […]
Neuro-ophthalmological manifestations of Wolfram syndrome: Case series and review of the literature
J Neurol Sci. 2022 Jun 15;437:120267. doi: 10.1016/j.jns.2022.120267. Epub 2022 Apr 20. ABSTRACT Wolfram Syndrome (WS) is a rare progressive hereditary neurodegenerative disease with hallmark features of diabetes mellitus, optic atrophy, and hearing loss. Its other clinical manifestations may include diabetes insipidus, urological, neurological, and psychiatric abnormalities. We review systemic and ocular manifestations of WS […]
The Pattern of Retinal Ganglion Cell Loss in Wolfram Syndrome is Distinct From Mitochondrial Optic Neuropathies
Am J Ophthalmol. 2022 Sep;241:206-216. doi: 10.1016/j.ajo.2022.03.019. Epub 2022 Apr 20. ABSTRACT PURPOSE: To describe the clinical phenotype of a cohort of patients with Wolfram syndrome (WS), focusing on the pattern of optic atrophy correlated with brain magnetic resonance imaging (MRI) measurements, as compared with patients with OPA1-related dominant optic atrophy (DOA). DESIGN: Retrospective, comparative […]
Novel missense WFS1 variant causing autosomal dominant atypical Wolfram syndrome
Ophthalmic Genet. 2022 Aug;43(4):567-572. doi: 10.1080/13816810.2022.2068038. Epub 2022 Apr 21. ABSTRACT BACKGROUND: In contrast to the classic autosomal recessive Wolfram syndrome, Wolfram-like syndrome (WLS) is an autosomal dominant disease caused by heterozygous variants in the WFS1 gene. Here, we present deep phenotyping of a mother and son with a WFS1 variant NM_006005.3:c.2508 G > T, […]