title: Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
abstract: Wiskott-Aldrich syndrome (WAS), is an X-linked immunodeficiency disease caused by mutations of the WAS protein (WASP) gene, characterized by thrombocytopenia, eczema and recurrent infections. X-linked thrombocytopenia (XLT) is a milder form with only platelet abnormalities. Cumulative mutation data have revealed that WASP genotypes are highly variable among WAS patients. By SSCP analysis, we determined the location of the mutation in 23 WAS patients from 17 unrelated families with variable clinical phenotypes. Direct sequence analysis of genomic DNA showed 9 novel mutations (Q52H, G70W, 393del7, Ex 7 Ex11del, IVS 8+1G-->C, 925delG, 959ins38, 1380del8, and IVS 2+2T-->C) and 8 known mutations distributed throughout the WAS gene. This is the first report of WAS gene mutations from a Latin American country.
authors.affiliation: Molecular Biology Laboratory, Hospital Nacional de Pediatria "J.P Garrahan", Buenos Aires, Argentina.
authors.forename: Jazmin
authors.initials: J
authors.lastname: El-Hakeh
authors.forename: Sergio
authors.initials: S
authors.lastname: Rosenzweig
authors.forename: Matias
authors.initials: M
authors.lastname: Oleastro
authors.forename: Nora
authors.initials: N
authors.lastname: Basack
authors.forename: Liliana
authors.initials: L
authors.lastname: Berozdnik
authors.forename: Felisa
authors.initials: F
authors.lastname: Molina
authors.forename: Eva Maria
authors.initials: EM
authors.lastname: Rivas
authors.forename: Marta
authors.initials: M
authors.lastname: Zelazko
authors.forename: Silvia
authors.initials: S
authors.lastname: Danielian
mesh_terms: D001118:Argentina / Q000453:epidemiology; D004252:DNA Mutational Analysis; D005091:Exons / Q000235:genetics; D005820:Genetic Testing; D005838:Genotype; D006801:Humans; D007438:Introns / Q000235:genetics; D008297:Male; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000453:epidemiology / Q000235:genetics* / Q000503:physiopathology; D051316:Wiskott-Aldrich Syndrome Protein
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein