Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations

Hum Mutat. 2002 Feb;19(2):186-7. doi: 10.1002/humu.9013.

Abstract

Wiskott-Aldrich syndrome (WAS), is an X-linked immunodeficiency disease caused by mutations of the WAS protein (WASP) gene, characterized by thrombocytopenia, eczema and recurrent infections. X-linked thrombocytopenia (XLT) is a milder form with only platelet abnormalities. Cumulative mutation data have revealed that WASP genotypes are highly variable among WAS patients. By SSCP analysis, we determined the location of the mutation in 23 WAS patients from 17 unrelated families with variable clinical phenotypes. Direct sequence analysis of genomic DNA showed 9 novel mutations (Q52H, G70W, 393del7, Ex 7 Ex11del, IVS 8+1G-->C, 925delG, 959ins38, 1380del8, and IVS 2+2T-->C) and 8 known mutations distributed throughout the WAS gene. This is the first report of WAS gene mutations from a Latin American country.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Argentina / epidemiology
  • DNA Mutational Analysis
  • Exons / genetics
  • Genetic Testing
  • Genotype
  • Humans
  • Introns / genetics
  • Male
  • Mutation / genetics*
  • Phenotype
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Wiskott-Aldrich Syndrome / epidemiology
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome / physiopathology
  • Wiskott-Aldrich Syndrome Protein

Substances

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