title: Missense mutations of the WASP gene cause intermittent X-linked thrombocytopenia.
abstract: 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.
authors.affiliation: Department of Pediatrics, Istituto di Medicina Molecolare Angelo Nocivelli, University of Brescia, Spedali Civili, 25123 Brescia, Italy. notarang@master.cci.unibs.it
authors.forename: Lucia D
authors.initials: LD
authors.lastname: Notarangelo
authors.forename: Cinzia
authors.initials: C
authors.lastname: Mazza
authors.forename: Silvia
authors.initials: S
authors.lastname: Giliani
authors.forename: Chiara
authors.initials: C
authors.lastname: D'Aria
authors.forename: Francesca
authors.initials: F
authors.lastname: Gandellini
authors.forename: Chiara
authors.initials: C
authors.lastname: Ravelli
authors.forename: Maria Grazia
authors.initials: MG
authors.lastname: Locatelli
authors.forename: David L
authors.initials: DL
authors.lastname: Nelson
authors.forename: Hans D
authors.initials: HD
authors.lastname: Ochs
authors.forename: Luigi D
authors.initials: LD
authors.lastname: Notarangelo
mesh_terms: 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
chemical_list: D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein