Clinical and genetic analysis of a pedigree with Wolfram syndrome / 国际眼科杂志(Guoji Yanke Zazhi)
International Eye Science
;
(12): 1930-1934, 2023.
Article
in Chinese
| WPRIM
| ID: wpr-996913
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
International Eye Science
Year:
2023
Type:
Article
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