MUTATIONAL SCREENING OF THROMBOPOIETIN RECEPTOR GENE (C-MPL) IN PATIENTS WITH CONGENITAL THROMBOCYTOPENIA AND ABSENT RADII (TAR)

Thrombocytopenia with absent radii (TAR) is a rare autosomal recessive disease characterized by hypomega-karyocytic thrombocytopenia and bil ateral radial aplasia. We performed mutational screening of coding and promoter regions of the c-mpl gene, encoding thrombopoietin (TPO) rec eptor, by sequence analysis in four unrelated patients affected by TAR syndrome. Our results indicate that c-mpl gene mutations are not a co mmon cause of thrombocytopenia in TAR syndrome.