A novel
WFS1 gene
Wolfram syndrome
diabetes mellitus
diabetic retinopathy
genetic variation
Journal
Ophthalmic genetics
ISSN: 1744-5094
Titre abrégé: Ophthalmic Genet
Pays: England
ID NLM: 9436057
Informations de publication
Date de publication:
06 2023
06 2023
Historique:
medline:
22
5
2023
pubmed:
13
9
2022
entrez:
12
9
2022
Statut:
ppublish
Résumé
Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic mutations in the The mutation screening was performed by polymerase chain reaction followed by Sanger sequencing of the entire coding sequence of the A novel homozygous missense variant c.1901A>T (p.Lys634Met) was found in the proband and classified as probably pathogenic according to the American College of Medical Genetics and Genomics. The molecular study of the
Sections du résumé
BACKGROUND
Wolfram syndrome type 1 is a rare neurodegenerative disorder including diabetes insipidus, diabetes mellitus, optic atrophy, and deafness, with variable additional findings. The phenotypic spectrum is very heterogeneous, with non-autoimmune juvenile-onset diabetes and optic atrophy as minimal criteria for the diagnosis. Biallelic mutations in the
METHODS
The mutation screening was performed by polymerase chain reaction followed by Sanger sequencing of the entire coding sequence of the
RESULTS
A novel homozygous missense variant c.1901A>T (p.Lys634Met) was found in the proband and classified as probably pathogenic according to the American College of Medical Genetics and Genomics.
CONCLUSIONS
The molecular study of the
Identifiants
pubmed: 36094066
doi: 10.1080/13816810.2022.2113546
doi:
Substances chimiques
wolframin protein
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM