Identification of the rare variant p.Val803Met of WFS1 gene as a cause of Wolfram-like syndrome in a Chinese family
Sign Up to like & getrecommendations! Published in 2020 at "Acta Diabetologica"
DOI: 10.1007/s00592-020-01572-y
Abstract: Wolfram-like syndrome (OMIM #614296) is a rare autosomal dominant disease caused by heterozygous mutations in the WFS1 gene [1]. Its clinical manifestations are highly variable, including sensorineural hearing loss, deafness, optic atrophy and/or diabetes mellitus… read more here.
Keywords: like syndrome; wfs1 gene; wolfram like;
A nonsynonymous mutation in the WFS1 gene in a Finnish family with age-related hearing impairment
Sign Up to like & getrecommendations! Published in 2017 at "Hearing Research"
DOI: 10.1016/j.heares.2017.09.013
Abstract: Abstract Wolfram syndrome (WS) is caused by recessive mutations in the Wolfram syndrome 1 (WFS1) gene. Sensorineural hearing impairment (HI) is a frequent feature in WS and, furthermore, certain mutations in WFS1 cause nonsyndromic dominantly… read more here.
Keywords: hearing impairment; wfs1; mutation wfs1; wfs1 gene ... See more keywords
Wolfram-like syndrome – another face of a rare disease in children
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Pediatric Endocrinology and Metabolism"
DOI: 10.1515/jpem-2021-0348
Abstract: Abstract Objectives The presence of two pathogenic variants in the WFS1 gene leads to the occurrence of a rare genetic disease in children – Wolfram syndrome (WFS), which includes insulin-dependent diabetes mellitus (DM), optic atrophy… read more here.
Keywords: children wolfram; wfs1 gene; like syndrome; disease children ... See more keywords