title: Missense C168T in the Wiskott--Aldrich Syndrome protein gene is a common mutation in X-linked thrombocytopenia.
abstract: We describe a large Syrian--Lebanese family who clinically manifest X-linked thrombocytopenia (XLT). To date, five family members have undergone splenectomy with rapid and sustained normalization of their platelet numbers. Genomic analysis demonstrated that affected men in this cohort had the missense C168T (Thr45Met) mutation in exon 2 of the Wiskott-Aldrich Syndrome protein (WASp) gene. Exon 2 is the commonest site for mutations associated with XLT and mild forms of WAS, and the C168T missense mutation is the most frequent. Detection of this mutation by restriction enzyme digestion provides an efficient screening test for prompt identification and for assessment of female carrier status.
authors.affiliation: Institute of Haematology, Royal Prince Alfred Hospital, Sydney, NSW, Australia. robandlin@ozemail.com.au
authors.forename: L L
authors.initials: LL
authors.lastname: Ho
authors.forename: J
authors.initials: J
authors.lastname: Ayling
authors.forename: I
authors.initials: I
authors.lastname: Prosser
authors.forename: H
authors.initials: H
authors.lastname: Kronenberg
authors.forename: H
authors.initials: H
authors.lastname: Iland
authors.forename: D
authors.initials: D
authors.lastname: Joshua
mesh_terms: D000328:Adult; D005091:Exons; D005260:Female; D008040:Genetic Linkage; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D009419:Nerve Tissue Proteins / Q000235:genetics*; D010375:Pedigree; D010976:Platelet Count; D015183:Restriction Mapping; D017422:Sequence Analysis, DNA; D013156:Splenectomy; D013921:Thrombocytopenia / Q000175:diagnosis / Q000235:genetics* / Q000601:surgery; D051317:Wiskott-Aldrich Syndrome Protein, Neuronal
chemical_list: D009419:Nerve Tissue Proteins; C495771:WASL protein, human; D051317:Wiskott-Aldrich Syndrome Protein, Neuronal