Clinical and genetic analysis of a pedigree with Wolfram syndrome

Clinical and genetic analysis of a pedigree with Wolfram syndrome

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 prob...

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Bibliographic Details
Main Authors: Zi-Jie Chen, Yu-Kai Mao, Ning Fan, Yan-Fen Hong, Xu-Yang Liu
Format: Article
Language:English
Published: Press of International Journal of Ophthalmology (IJO PRESS) 2023-11-01
Series:Guoji Yanke Zazhi
Subjects:
wolfram syndrome
wfs1 gene
genetic analysis
mutation
Online Access:http://ies.ijo.cn/cn_publish/2023/11/202311032.pdf
Description
Summary: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.
ISSN:1672-5123

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