title: Detection of a novel splice-site mutation that results in skipping exon 3 of the WASP gene in a patient with Wiskott-Aldrich syndrome.
abstract: Wiskott-Aldrich syndrome (WAS) is one of the primary immunodeficiency diseases, that is inherited as an X-linked recessive trait. Since the responsible gene, the WASP gene, has been identified, various mutations for patients with WAS have been reported. We found a novel splice-site mutation in a patient with clinically diagnosed WAS. The mutation was a replacement of ag by aa in an acceptor site of intron 2 of the WASP gene. Sequencing studies of the WASP cDNA of the patient revealed that exon 3 of the WASP gene was abnormally missing due to a splicing defect.
authors.affiliation: Department of Pediatrics, Hokkaido University School of Medicine, Sapporo, Japan. ari@med.hokudai.ac.jp
authors.forename: T
authors.initials: T
authors.lastname: Ariga
authors.forename: M
authors.initials: M
authors.lastname: Yamada
authors.forename: F R
authors.initials: FR
authors.lastname: Pudua
authors.forename: Y
authors.initials: Y
authors.lastname: Sakiyama
mesh_terms: D005091:Exons; D006801:Humans; D007223:Infant; D008297:Male; D017354:Point Mutation; D011506:Proteins / Q000235:genetics*; D012326:RNA Splicing; D012333:RNA, Messenger / Q000235:genetics; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; D012333:RNA, Messenger; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein