The Wiskott-Aldrich Syndrome and X-Linked Congenital Thrombocytopenia Are Caused by Mutations

Abstract

The Wiskott-Aldrich syndrome (WAS) is an X-linked recessive disorder characterized by thrombocytopenia, small platelets, eczema, recurrent infections, and immunodeficiency. Besides the classic WAS phenotype, there is a group of patients with congenital X-linked thrombocytopenia (XLT) who have small platelets but only transient eczema, if any, and minimal immune deficiency. Because the gene responsible for WAS has been sequenced, it was possible to correlate the WAS phenotypes with WAS gene mutations. Using a fingerprinting screening technique, we determined the approximate location of the mutation in 13 unrelated WAS patients with mild to severe clinical symptoms. Direct sequence analysis of cDNA and genomic DNA obtained from

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Cite this paper

@inproceedings{Junker2002TheWS, title={The Wiskott-Aldrich Syndrome and X-Linked Congenital Thrombocytopenia Are Caused by Mutations}, author={Anne Junker and Uta Francke and Shi-Han Chen}, year={2002} }