Results 1 to 10 of about 2,517,817 (182)

A novel mutation of WFS1 gene in a Chinese patient with Wolfram syndrome: a case report [PDF]

BMC Pediatrics, 2018
Background Wolfram syndrome (WS), caused by mutations of the Wolfram syndrome 1 (WFS1) gene on chromosome 4p16.1, is an autosomal recessive disorder characterized by diabetes insipidus (DI), neuro-psychiatric disorders, hearing deficit, and urinary tract
Min Li, Jia Liu, Huan Yi, Li Xu, Xiufeng Zhong, Fuhua Peng   +5 more
doaj   +6 more sources

Genomics of Wolfram Syndrome 1 (WFS1)

Biomolecules, 2023
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.
Sulev Kõks
doaj   +4 more sources

Mutation analysis of the WFS1 gene in a Chinese family with autosomal-dominant non-syndrome deafness [PDF]

Scientific Reports, 2022
To analyse the pathogenic genes and mutations of a family with hereditary deafness. We recruited a three-generation family with NSHL. A detailed medical history inquiry and related examinations were performed. Next-generation sequencing (NGS) was used to
Jing Zhao, Siqi Zhang, Yuan Jiang, Yan Liu, Jiantao Wang, QingWen Zhu   +5 more
doaj   +4 more sources

A case of adult-onset Wolfram syndrome with compound heterozygous mutations of the WFS1 gene [PDF]

American Journal of Ophthalmology Case Reports, 2022
Purpose: Wolfram syndrome is a rare genetic disorder characterized by juvenile onset of diabetes mellitus with bilateral optic atrophy. We report a case of adult onset Wolfram syndrome with diabetes mellitus at age 22 and optic atrophy after age 40.
Jinhee Lee, Takuya Iwasaki, Tomoko Kaida, Hideki Chuman, Akiko Yoshimura, Yuji Okamoto, Hiroshi Takashima, Kazunori Miyata   +7 more
doaj   +4 more sources

Identification of a pathogenic founder variant in the WFS1 gene that causes Wolfram syndrome in the Druze population [PDF]

Frontiers in Pediatrics
ContextWolfram syndrome (WS) is an autosomal recessive neurodegenerative disorder caused by pathogenic variants in the WFS1 gene. It is characterized by central diabetes insipidus, juvenile-onset diabetes mellitus (DM), optic atrophy (OA), and deafness ...
Inbal Halabi, Inbal Halabi, Yardena Tenenbaum-Rakover, Yardena Tenenbaum-Rakover, Lena Sagi-Dain, Lena Sagi-Dain, Lena Sagi-Dain, Ilana Koren, Ilana Koren, Ilana Koren   +9 more
doaj   +4 more sources

A novel mutation of WFS1 gene leading to increase ER stress and cell apoptosis is associated an autosomal dominant form of Wolfram syndrome type 1 [PDF]

BMC Endocrine Disorders, 2021
Background Wolfram syndrome (WS) is a rare autosomal recessive disorder characterized by diabetes insipidus, diabetes mellitus, optic atrophy and deafness.
Yingying Gong, Li Xiong, Xiujun Li, Lei Su, Haipeng Xiao   +4 more
doaj   +2 more sources

Case Report: A novel mutation in WFS1 gene (c.1756G>A p.A586T) is responsible for early clinical features of cognitive impairment and recurrent ischemic stroke [PDF]

Frontiers in Genetics, 2023
Wolfram syndrome 1 (WFS1) gene mutations can be dominantly or recessively inherited, and the onset of the clinical picture is highly heterogeneity in both appearance and degree of severity.
Yuan Chen, Yuan Chen, Yuan Chen, Miao Zhang, Miao Zhang, Miao Zhang, Yuying Zhou, Yuying Zhou, Yuying Zhou, Pan Li, Pan Li, Pan Li   +11 more
doaj   +2 more sources

WFS1 gene delivery rescues visual function in a mouse model of Wolfram syndrome [PDF]

Acta Neuropathologica Communications
Wolfram syndrome is a rare childhood neurodegenerative disease characterized by diabetes followed by severe and rapid optic atrophy leading to blindness before the age of 20.
Jolanta Jagodzinska, Marie Péquignot, Emmanuelle Sarzi, Mélanie Quiles, Chantal Cazevieille, Agnès Müller, Sulev Koks, Cécile Delettre   +7 more
doaj   +3 more sources

Diagnostic Yield and Clinical Impact of Comprehensive WES/WGS Testing Beyond Common Genetic Causes in Hereditary Optic Atrophy. [PDF]

Clin Genet
Opticus 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, Grønskov K, Kessel L, Holstein SLV, Møller LB, Andersen MKG, Khinchi MS, Hamann S, Wegener M, Bertelsen M.   +9 more
europepmc   +2 more sources

WFS1-related isolated diabetes induced by a WFS1 missense mutation: focus on the isolated diabetes phenotype [PDF]

Orphanet Journal of Rare Diseases
Background Wolfram syndrome is a rare disease caused by the mutation of WFS1 gene, characterized as s spectrum of disorders. We aim to investigate the clinical features and pathogenic mechanisms of a WFS1 missense mutation inducing atypical phenotype ...
Mei Huang, Qianying Wei, Yao Qin, Lu Qin, Ying Shao, Suyu Wang, Xinyi Qu, Tao Yang, Mei Zhang   +8 more
doaj   +2 more sources