Clinical and genetic analysis of a pedigree with Wolfram syndrome
10.3980/j.issn.1672-5123.2023.11.32
- VernacularTitle:Wolfram综合征一家系的临床及遗传学分析
- Author:
Zi-Jie CHEN
1
;
Yu-Kai MAO
1
;
Ning FAN
1
;
Yan-Fen HONG
1
;
Xu-Yang LIU
1
Author Information
1. Xiamen Eye Center of Xiamen University, Xiamen 361000, Fujian Province, China
- Publication Type:Journal Article
- Keywords:
Wolfram syndrome;
WFS1 gene;
genetic analysis;
mutation
- From:
International Eye Science
2023;23(11):1930-1934
- CountryChina
- Language:Chinese
-
Abstract:
AIM: To investigate the clinical features and genetic background of autosomal recessive Wolfram syndrome caused by WFS1 gene mutation.METHODS: A pedigree with autosomal recessive Wolfram syndrome was studied by clinical examination, gene analysis and bioinformatics.RESULT: It was found that the proband and his brother had diabetes, color weakness and optic neuropathy. In addition, his brother had diabetes insipidus. Whole-exome sequencing(WES)analysis showed that there were two heterozygous variations in the WFS1 gene exon 8 of the two brothers: c.941G>A(p.W314X)and c.2309T>G(p.F770C), and were co-separated from the clinical phenotype in this family.CONCLUSION: The compound heterozygous mutation of WFS1 gene is associated with Wolfram syndrome in this pedigree. Among them, c.941G>A(p.W314X)has not been reported yet.
