Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome

Hum Mutat. 2000 Apr;15(4):386-7. doi: 10.1002/(SICI)1098-1004(200004)15:4<386::AID-HUMU24>3.0.CO;2-1.

Abstract

Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patients with classical WAS of Dutch descent was examined by single-strand conformation polymorphism and sequence analysis. We have identified 6 novel mutations that involve nonsense mutations (196C-->A, 344C-->T), or small deletions (553delG, 768del19, IVS8+1delGTGA, 911delT), all of which result in predicted truncation of WASP protein synthesis.

MeSH terms

  • Alternative Splicing / genetics
  • DNA Mutational Analysis / methods
  • Frameshift Mutation / genetics
  • Humans
  • Male
  • Mutation / genetics*
  • Mutation, Missense / genetics
  • Netherlands
  • Polymorphism, Single-Stranded Conformational
  • Proteins / genetics*
  • Sequence Deletion / genetics
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome Protein

Substances

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