Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations.
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.
El-Hakeh
Jazmin
J
Molecular Biology Laboratory, Hospital Nacional de Pediatria "J.P Garrahan", Buenos Aires, Argentina.
Rosenzweig
Sergio
S
Oleastro
Matias
M
Basack
Nora
N
Berozdnik
Liliana
L
Molina
Felisa
F
Rivas
Eva Maria
EM
Zelazko
Marta
M
Danielian
Silvia
S
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
D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein