title: Identification of WASP mutations in 10 Australian families with Wiskott-Aldrich syndrome and X-linked thrombocytopenia.
abstract: Mutations of the gene encoding the Wiskott-Aldrich syndrome protein (WASP) have been previously shown to be responsible for classical Wiskott-Aldrich syndrome (WAS), isolated X-linked thrombocytopenia (XLT) and severe congenital X-linked neutropenia.
  
  
  OBJECTIVE
  Identification of WASP mutations in 10 unrelated Australian families presenting with clinical features of WAS/XLT.
  
  
  METHODS
  Mutation analysis was performed by PCR and sequence analysis.
  
  
  CONCLUSIONS
  Two novel mutations and seven mutations which have previously been reported were identified. The novel mutations consisted of a missense mutation in exon 2 (C290A) associated with the phenotype of XLT and a mutation in intron 10 (1372+1G>A) in the mother of two boys presenting with a classical WAS phenotype.
authors.affiliation: Department of Immunopathology, ICPMR Westmead Hospital, Westmead, NSW, Australia.
authors.forename: Helen C
authors.initials: HC
authors.lastname: Bourne
authors.forename: Susan
authors.initials: S
authors.lastname: Weston
authors.forename: Madhuri
authors.initials: M
authors.lastname: Prasad
authors.forename: Edward
authors.initials: E
authors.lastname: Edkins
authors.forename: Elisabeth M
authors.initials: EM
authors.lastname: Benson
mesh_terms: D001315:Australia; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein