title: X-linked thrombocytopenia and Wiskott-Aldrich syndrome are allelic diseases with mutations in the WASP gene.
abstract: X-linked thrombocytopenia (XLT) is a rare recessive hereditary disorder characterized by isolated thrombocytopenia with small-sized platelets. The XLT locus has been located to chromosome Xp11 by linkage analysis, which is also where the recently cloned Wiskott-Aldrich syndrome (WAS) gene, maps. The relationship between XLT and WAS has long been debated; they might be due to different mutations of the same gene or to mutations in different genes. We now show that mutations in the WAS gene, different from those found in WAS patients, are present in three unrelated male patients with isolated thrombocytopenia and small-sized platelets. Our results demonstrate that XLT and WAS are allelic forms of the same disease, but the causes of the differences need to be further investigated.
authors.affiliation: Istituto di Tecnologie Biomediche Avanzate, CNR, Milano, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Villa
authors.forename: L
authors.initials: L
authors.lastname: Notarangelo
authors.forename: P
authors.initials: P
authors.lastname: Macchi
authors.forename: E
authors.initials: E
authors.lastname: Mantuano
authors.forename: G
authors.initials: G
authors.lastname: Cavagni
authors.forename: D
authors.initials: D
authors.lastname: Brugnoni
authors.forename: D
authors.initials: D
authors.lastname: Strina
authors.forename: M C
authors.initials: MC
authors.lastname: Patrosso
authors.forename: U
authors.initials: U
authors.lastname: Ramenghi
authors.forename: M G
authors.initials: MG
authors.lastname: Sacco
mesh_terms: D000483:Alleles; D001483:Base Sequence; D002648:Child; D004247:DNA / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D005091:Exons; D016368:Frameshift Mutation; D005796:Genes; D006801:Humans; D007438:Introns; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D013921:Thrombocytopenia / Q000235:genetics*; D014923:Wiskott-Aldrich Syndrome / Q000235:genetics*; D051316:Wiskott-Aldrich Syndrome Protein; D014960:X Chromosome
chemical_list: D017931:DNA Primers; D011506:Proteins; C495767:WAS protein, human; D051316:Wiskott-Aldrich Syndrome Protein; D004247:DNA