Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
Mutations of the WASP gene have been previously shown to be responsible for classical Wiskott-Aldrich syndrome, isolated X-linked thrombocytopenia, and severe, congenital X-linked neutropenia. We report herewith 2 families in which affected males had a history of intermittent thrombocytopenia with consistently reduced platelet volume, in the absence of other major clinical features, and carried missense mutations of the WASP gene that allowed substantial protein expression. This observation broadens the spectrum of clinical phenotypes associated with WASP gene defects, and it indicates the need for molecular analysis in males with reduced platelet volume, regardless of the platelet number.
Notarangelo
Lucia D
LD
Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy. notarang@master.cci.unibs.it
Mazza
Cinzia
C
Giliani
Silvia
S
D'Aria
Chiara
C
Gandellini
Francesca
F
Ravelli
Chiara
C
Locatelli
Maria Grazia
MG
Nelson
David L
DL
Ochs
Hans D
HD
Notarangelo
Luigi D
LD
D000328:Adult; D001792:Blood Platelets / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D005192:Family Health; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D011506:Proteins / Q000235:genetics* / Q000378:metabolism; D013921:Thrombocytopenia / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000097:blood* / Q000235:genetics; D051316:Wiskott-Aldrich Syndrome Protein; D014960:X Chromosome
D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein