title: Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.
abstract: The Wiskott-Aldrich syndrome (WAS) is characterized by defective platelet and lymphocyte function associated with eczema and increased susceptibility to malignancies. It is caused by mutations of the WAS protein-encoding gene (WASP). X-lined thrombocytopenia, defined by low platelet counts and volume, may be an allelic variant of WAS. In patients with XLT from two unrelated families, WASP gene defects were identified by single-strand conformational polymorphism and by sequencing. Point mutations in exon 2 of the WASP gene were found in the patients from both families in which XLT segregated. Several obligate heterozygote female members of these families display a random pattern of X inactivation in their peripheral blood leukocytes. This study shows that XLT may be caused by mutations of the WASP, thus representing an allelic variant of WAS.
authors: INSERM Unité 429, Hôpital Necker-Enfants Malades, Paris, France.
authors: G
authors: G
authors: de Saint Basile
authors: R D
authors: RD
authors: Lagelouse
authors: N
authors: N
authors: Lambert
authors: K
authors: K
authors: Schwarz
authors: B
authors: B
authors: Le Mareck
authors: S
authors: S
authors: Odent
authors: N
authors: N
authors: Schlegel
authors: A
authors: A
authors: Fischer
mesh_terms: D000328:Adult; D005260:Female; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D008875:Middle Aged; D010375:Pedigree; D018807:Polymorphism, Single-Stranded Conformational; D006178:Romani People / Q000235:genetics; D012728:Sex Chromatin / Q000235:genetics; D013921:Thrombocytopenia / Q000235:genetics*; D014960:X Chromosome / Q000235:genetics*