Wolfram syndrome: phenotype and novel mutation in two Taiwanese siblings

J Formos Med Assoc. 2003 Nov;102(11):808-11.

Abstract

Wolfram syndrome (WS) is a rare autosomal recessive neurodegenerative disorder. The responsible gene, WFS1, was identified in 1998 and over 66 mutations have been reported since then. We report 2 siblings in a Taiwanese family with WS. They had similar clinical courses, including successive development of diabetes mellitus, optic atrophy, diabetes insipidus, hearing impairment, and urological complications from age 5 to 15 years. Rapid progression of systemic and neurological symptoms was noted in the elder brother. Mutation analysis of the 2 probands revealed compound heterozygotes of 1 novel and 1 previously reported mutation. Their parents and an asymptomatic sibling were carriers of 1 mutation.

Publication types

  • Case Reports

MeSH terms

  • Blood Platelet Disorders / genetics*
  • Chromosomes, Human, Pair 4*
  • Codon, Nonsense*
  • Female
  • Humans
  • Infant, Newborn
  • Male
  • Peptic Ulcer / genetics*
  • Phenotype
  • Siblings
  • Wolfram Syndrome / genetics*

Substances

  • Codon, Nonsense