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Wiskott-Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations

✍ Scribed by Jazmin El-Hakeh; Sergio Rosenzweig; Matias Oleastro; Nora Basack; Liliana Berozdnik; Felisa Molina; Eva Maria Rivas; Marta Zelazko; Silvia Danielian

Publisher
John Wiley and Sons
Year
2002
Tongue
English
Weight
35 KB
Volume
19
Category
Article
ISSN
1059-7794

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✦ Synopsis

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.

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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 patie