Wolfram syndrome type 1: a case series.

Orphanet J Rare Dis

Department of Endocrinology and Metabolism, People's Hospital of Xinjiang Uygur Autonomous Region, Xinjiang Clinical Research Center for Diabetes, Urumqi, 830000, China.

Published: November 2023

Background: Wolfram syndrome (WS) is a rare autosomal recessive multisystem neurodegenerative disease characterized by non-autoimmune insulin-dependent diabetes mellitus, optic atrophy, sensorineural deafness, and diabetes as the main features. Owing to clinical phenotypic heterogeneity, the misdiagnosis rate is high. However, early accurate diagnosis and comprehensive management are key to improving quality of life and prolonging life.

Results: Eleven patients from seven WS pedigrees with 10 mutation sites (c.1314_1317delCTTT, c.C529T, c.C529A, c.G2105A, c.C1885T, c.1859_1860del, c.G2020A, c.C529A, c.G2105A, and c.G1393C) in the WFS1 gene were included. We conducted further expert department analysis to clarify the diagnosis and analyze the correlation between genes and phenotypes.

Conclusions: The genotypes of these patients were closely associated with their phenotypes. The clinical data of the patients were analyzed to provide a basis for the diagnosis and clinical management of the disease.

Download full-text PDF

Source
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC10652474PMC
http://dx.doi.org/10.1186/s13023-023-02938-5DOI Listing

Publication Analysis

Top Keywords

wolfram syndrome
8
cc529a cg2105a
8
syndrome type
4
type case
4
case series
4
series background
4
background wolfram
4
syndrome rare
4
rare autosomal
4
autosomal recessive
4

Similar Publications

Want AI Summaries of new PubMed Abstracts delivered to your In-box?

Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!