Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

Cell. 1994 Aug 26;78(4):635-44. doi: 10.1016/0092-8674(94)90528-2.


Wiskott-Aldrich syndrome (WAS) is an X-linked recessive immunodeficiency characterized by eczema, thrombocytopenia, and recurrent infections. Linkage studies have placed the gene at Xp11.22-p11.23. We have isolated from this interval a novel gene, WASP, which is expressed in lymphocytes, spleen, and thymus. The gene is not expressed in two unrelated WAS patients, one of whom has a single base deletion that produces a frame shift and premature termination of translation. Two additional patients have been identified with point mutations that change the same arginine residue to either a histidine or a leucine. WASP encodes a 501 amino acid proline-rich protein that is likely to be a key regulator of lymphocyte and platelet function.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Sequence
  • Amino Acids / analysis
  • Base Sequence
  • Chromosome Mapping
  • Cloning, Molecular
  • DNA, Complementary / genetics
  • Female
  • Genetic Linkage
  • Humans
  • Infant
  • Male
  • Molecular Sequence Data
  • Organ Specificity
  • Pedigree
  • Point Mutation / genetics
  • Proteins / genetics*
  • RNA, Messenger / analysis
  • Sequence Analysis, DNA
  • Sequence Deletion / genetics
  • Wiskott-Aldrich Syndrome / genetics*
  • Wiskott-Aldrich Syndrome Protein
  • X Chromosome*


  • Amino Acids
  • DNA, Complementary
  • Proteins
  • RNA, Messenger
  • WAS protein, human
  • Wiskott-Aldrich Syndrome Protein

Associated data

  • GENBANK/U12707
  • GENBANK/U28688
  • GENBANK/U28689
  • GENBANK/U28690
  • GENBANK/U28691
  • GENBANK/U29093