CHARACTERIZATION OF A DELETION MUTATION INVOLVING EXONS-3-7 OF THE WASP GENE DETECTED IN A PATIENT WITH WISKOTT-ALDRICH-SYNDROME

A case of Wiskott-Aldrich syndrome (WAS) suspected to have a deletion mutation in the WAS protein (WASP) gene had previously been reported ( Ariga et al., 1997). Genomic polymerase chain reaction (PCR) suggested that exons 3-7 of the WASP gene were included in the deletion. Presen t Southern blot studies confirm that the deletion is approximately 2.0 kb in length, involving exons 3-7 and seemed to have been created by the fusion of introns 2 and 7. To characterize the deletion mutation i n detail, we analyzed the PCR-amplified fragments of introns 2 and 7 f rom normal individuals and the fragment suspected of including the del etion junction from the patient. Sequencing of the patient fragment re vealed that the deletion mutation involving exons 3-7 of the WASP gene did, indeed, result from the fusion of introns 2 and 7. (C) 1997 Wile y-Liss, Inc.