Identification of WASP mutations in 10 Australian families with Wiskott–Aldrich syndrome and X-linked thrombocytopenia

Summary 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. Aims 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. Results and 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.