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High prevalence of nonsense, frame shift, and splice-site mutations in 16
patients with full-blown Wiskott-Aldrich syndrome
GS Wengler, LD Notarangelo, S Berardelli, G Pollonni, P Mella, A Fasth, AG Ugazio and O Parolini
Department of Pediatrics, University of Brescia, Italy.
Wiskott-Aldrich syndrome (WAS) is a fully penetrant X-linked recessive
disorder characterized by immunodeficiency, thrombocytopenia, and severe
eczema. WAS is a life-threatening disease, with a poor quality of life and
high mortality rate in childhood. The gene responsible for the disease has
been localized to the proximal short arm of the X- chromosome and recently
isolated through positional cloning and named WAS protein (WASP). We have
characterized 17 WAS families. We have developed a rapid, nonradioactive
screening protocol for identifying WASP gene alterations in genomic DNA.
Our method allows simultaneous evaluation of single strand confirmation
polymorphism and heteroduplex formation. We have identified 15 novel
mutations that involve single basepair changes, or small insertions or
deletions, all of which result in premature stop cordon, frame shift with
secondary premature stop codon, or splice site defect. These studies
document the considerable heterogeneity of the location of mutations in the
WASP gene causing full-blown WAS and show the efficiency and rapidity of a
screening approach for mutation identification in WAS that will be useful
for carrier detection and prenatal diagnosis.
Volume 86,
Issue 10,
pp. 3648-3654,
11/15/1995
Copyright © 1995 by The American Society of Hematology
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