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 […]
Variants of WFS1 identified by whole exome sequencing in a boy with Wolfram syndrome 1: A case report
Biomed Rep. 2023 Aug 23;19(4):68. doi: 10.3892/br.2023.1650. eCollection 2023 Oct. ABSTRACT Wolfram syndrome 1 (WS1) is a rare autosomal recessive neurodegenerative disease. The condition is also known as ‘diabetes insipidus, diabetes mellitus (DM), optic atrophy (OA) and deafness’, with early onset DM and OA as the usual initial manifestations in childhood. The present study reports […]
Editorial: Debates in clinical management in pediatric endocrinology, volume II
Front Endocrinol (Lausanne). 2023 Aug 21;14:1270794. doi: 10.3389/fendo.2023.1270794. eCollection 2023. NO ABSTRACT PMID:37670885 | PMC:PMC10476077 | DOI:10.3389/fendo.2023.1270794
Wolfram Syndrome-2, a Cause of Severe Gastrointestinal Bleeding: A Case Series and a Literature Review
JPGN Rep. 2023 Jul 17;4(3):e339. doi: 10.1097/PG9.0000000000000339. eCollection 2023 Aug. ABSTRACT BACKGROUND: There are very few reports of Wolfram syndrome-2 (WFS2) in the literature, and understanding of involvement of the gastrointestinal (GI) tract in the syndrome is limited. Objectives: This study aims to describe the clinical presentations of a large number of WFS2 patients with […]
Wolfram Syndrome: Only a Neurodegenerative Disease or Also a Maculopathy?
J Neuroophthalmol. 2023 Aug 14. doi: 10.1097/WNO.0000000000001981. Online ahead of print. NO ABSTRACT PMID:37581949 | DOI:10.1097/WNO.0000000000001981
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 […]
Wolfram syndrome: Phenotypic heterogeneity and novel genetic variants in the WFS1 gene
Endocrinol Diabetes Nutr (Engl Ed). 2022 Feb;69(2):153-154. doi: 10.1016/j.endien.2020.11.007. NO ABSTRACT PMID:35256060 | DOI:10.1016/j.endien.2020.11.007