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Wiskott‐Aldrich syndrome in Argentina: 17 unique, including nine novel, mutations
Author(s) -
ElHakeh Jazmin,
Rosenzweig Sergio,
Oleastro Matias,
Basack Nora,
Berozdnik Liliana,
Molina Felisa,
Rivas Eva Maria,
Zelazko Marta,
Danielian Silvia
Publication year - 2002
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9013
Subject(s) - biology , wiskott–aldrich syndrome , genetics , wiskott–aldrich syndrome protein , mutation , computational biology , evolutionary biology , gene , cell , actin cytoskeleton , cytoskeleton
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. © 2002 Wiley‐Liss, Inc.