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Missense C168T in the Wiskott–Aldrich Syndrome protein gene is a common mutation in X‐linked thrombocytopenia
Author(s) -
Ho Lye Lin,
Ayling Juliet,
Prosser Ian,
Kronenberg Harry,
Iland Harry,
Joshua Douglas
Publication year - 2001
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2001.02465.x
Subject(s) - missense mutation , wiskott–aldrich syndrome , exon , mutation , genetics , wiskott–aldrich syndrome protein , mutation testing , biology , gene , microbiology and biotechnology , medicine , actin cytoskeleton , cytoskeleton , cell
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.