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...

Full description

Saved in:
Bibliographic Details
Published in:Human mutation 2002-02, Vol.19 (2), p.186-187
Main Authors: El-Hakeh, Jazmin, Rosenzweig, Sergio, Oleastro, Matias, Basack, Nora, Berozdnik, Liliana, Molina, Felisa, Rivas, Eva Maria, Zelazko, Marta, Danielian, Silvia
Format: Article
Language:English
Subjects:
Argentina - epidemiology
Argentinian
DNA Mutational Analysis
eczema
Exons - genetics
Genetic Testing
Genotype
Humans
Introns - genetics
Male
Mutation - genetics
mutation analysis
Phenotype
Polymorphism, Single-Stranded Conformational
Proteins - genetics
WAS
Wiskott-Aldrich syndrome
Wiskott-Aldrich Syndrome - epidemiology
Wiskott-Aldrich Syndrome - genetics
Wiskott-Aldrich Syndrome - physiopathology
Wiskott-Aldrich Syndrome Protein
X-linked thrombocytopenia
XLT
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1059-7794
1098-1004
DOI:10.1002/humu.9013