Guoji Yanke Zazhi (Nov 2023)

Clinical and genetic analysis of a pedigree with Wolfram syndrome

  • Zi-Jie Chen,
  • Yu-Kai Mao,
  • Ning Fan,
  • Yan-Fen Hong,
  • Xu-Yang Liu

DOI
https://doi.org/10.3980/j.issn.1672-5123.2023.11.32
Journal volume & issue
Vol. 23, no. 11
pp. 1930 – 1934

Abstract

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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.

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