Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia

Blood. 2002 Mar 15;99(6):2268-9. doi: 10.1182/blood.v99.6.2268.

Abstract

Mutations of the WASP gene have been previously shown to be responsible for classical Wiskott-Aldrich syndrome, isolated X-linked thrombocytopenia, and severe, congenital X-linked neutropenia. We report herewith 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other major clinical features, and carried missense mutations of the WASP gene that allowed substantial protein expression. This observation broadens the spectrum of clinical phenotypes associated with WASP gene defects, and it indicates the need for molecular analysis in males with reduced platelet volume, regardless of the platelet number.

Publication types

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

MeSH terms

  • Adult
  • Blood Platelets / pathology
  • Child
  • Child, Preschool
  • Family Health
  • Genetic Linkage*
  • Humans
  • Male
  • Mutation, Missense*
  • Pedigree
  • Proteins / genetics*
  • Proteins / metabolism
  • Thrombocytopenia / genetics*
  • Wiskott-Aldrich Syndrome / blood*
  • Wiskott-Aldrich Syndrome / genetics
  • Wiskott-Aldrich Syndrome Protein
  • X Chromosome*

Substances

  • Proteins
  • WAS protein, human
  • Wiskott-Aldrich Syndrome Protein