Category: Wolfram syndrome

Genomics of Wolfram Syndrome 1 (WFS1)

Biomolecules. 2023 Sep 4;13(9):1346. doi: 10.3390/biom13091346. ABSTRACT Wolfram Syndrome (WFS) is a rare, autosomal, recessive neurogenetic disorder that affects many organ systems. It is characterised by diabetes insipidus, diabetes mellites, optic atrophy, and deafness and, therefore, is also known as DIDMOAD. Nearly 15,000-30,000 people are affected by WFS worldwide, and, on average, patients suffering from […]

Next generation sequencing identifies a pathogenic mutation of WFS1 gene in a Moroccan family with Wolfram syndrome: a case report

J Med Case Rep. 2023 Sep 27;17(1):409. doi: 10.1186/s13256-023-04150-2. ABSTRACT BACKGROUND: Wolfram syndrome is a rare autosomal recessive neurodegenerative disorder that affects 1/200,000 to 1/1,000,000 children. It is characterized by juvenile onset diabetes, optic nerve atrophy and other systemic manifestations. Symptoms of the disease arise mostly in early childhood with a high mortality rate due […]

There’s More Than Meets the Eye: Wolfram Syndrome in a Type I Diabetic Patient

J Med Cases. 2023 Jul;14(7):265-269. doi: 10.14740/jmc4128. Epub 2023 Jul 31. ABSTRACT Wolfram syndrome (WS) is a rare neurodegenerative and genetic disorder, also known by the synonym DIDMOAD, which stands for diabetes insipidus (DI), childhood-onset diabetes mellitus (DM), optic atrophy (OA), and deafness (D). We present a case of a 25-year-old diabetic patient, using insulin […]

WFS1 Gene-associated Diabetes Phenotypes and Identification of a Founder Mutation in Southern India

J Clin Endocrinol Metab. 2022 Apr 19;107(5):1328-1336. doi: 10.1210/clinem/dgac002. ABSTRACT CONTEXT: Wolfram syndrome (WFS) is a rare autosomal recessive disorder characterized by juvenile-onset diabetes, diabetes insipidus, optic atrophy, deafness, and progressive neurodegeneration. However, due to the progressive nature of the disease and a lack of complete clinical manifestations, a confirmed diagnosis of WFS at the […]

Metabolic Treatment of Wolfram Syndrome

Int J Environ Res Public Health. 2022 Feb 27;19(5):2755. doi: 10.3390/ijerph19052755. ABSTRACT Wolfram Syndrome (WS) is a very rare genetic disorder characterized by several symptoms that occur from childhood to adulthood. Usually, the first clinical sign is non-autoimmune diabetes even if other clinical features (optic subatrophy, neurosensorial deafness, diabetes insipidus) may be present in an […]