IVS6+5G>A found in Wiskott-Aldrich syndrome and X-linked thrombocytopenia in a Korean family

Pediatr Blood Cancer. 2012 Feb;58(2):297-9. doi: 10.1002/pbc.23377. Epub 2011 Oct 28.

Abstract

Wiskott-Aldrich syndrome (WAS) and X-linked thrombocytopenia (XLT) are caused by a mutation in the WAS gene on Xp11.22. We report two patients with IVS6+5G>A of WAS in a Korean family. The proband presented with classic WAS, whereas his maternal cousin had symptoms limited to XLT. Their mothers were proved to be carriers. The IVS6+5G>A mutation was reported to result in incomplete splicing of the donor site and typically associated with mild form of disease, XLT. Our observation of the intrafamilial variability of clinical manifestations of WAS further expands the genotype-phenotype correlations and suggests the presence of modifying genetic factors.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Chromosomes, Human, X / genetics*
  • DNA Mutational Analysis
  • Exons / genetics*
  • Female
  • Genetic Association Studies
  • Humans
  • Korea
  • Male
  • Mutation / genetics*
  • Pedigree
  • Prognosis
  • Thrombocytopenia / genetics*
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome Protein / genetics*

Substances

  • Wiskott-Aldrich Syndrome Protein