title: Identification of six novel WASP gene mutations in patients suffering from Wiskott-Aldrich syndrome.
abstract: Mutation in the gene encoding the Wiskott-Aldrich Syndrome protein (WASP) has been identified as the genetic defect responsible for WAS, an X-linked primary immunodeficiency disease characterized by eczema, thrombocytopenia, and recurrent infections. In this study, the WASP gene of 7 unrelated patients with classical WAS of Dutch descent was examined by single-strand conformation polymorphism and sequence analysis. We have identified 6 novel mutations that involve nonsense mutations (196C-->A, 344C-->T), or small deletions (553delG, 768del19, IVS8+1delGTGA, 911delT), all of which result in predicted truncation of WASP protein synthesis.
authors.affiliation: Department of Pediatric Immunology, Wilhelmina Children's Hospital, University Medical Center Utrecht, P.O. Box 85090, 3508 AB Utrecht, The Netherlands. R.Brooimans@wkz.azu.nl
authors.forename: R A
authors.initials: RA
authors.lastname: Brooimans
authors.forename: A J
authors.initials: AJ
authors.lastname: van den Berg
authors.forename: R Y
authors.initials: RY
authors.lastname: Tamminga
authors.forename: T
authors.initials: T
authors.lastname: Revesz
authors.forename: N M
authors.initials: NM
authors.lastname: Wulffraat
authors.forename: B J
authors.initials: BJ
authors.lastname: Zegers
mesh_terms: D017398:Alternative Splicing / Q000235:genetics; D004252:DNA Mutational Analysis / Q000379:methods; D016368:Frameshift Mutation / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense / Q000235:genetics; D009426:Netherlands; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D017384:Sequence Deletion / 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