Mutational screening of thrombopoietin receptor gene (c-mpl) in patients with congenital thrombocytopenia and absent radii (TAR)

Br J Haematol. 1998 Nov;103(2):311-4. doi: 10.1046/j.1365-2141.1998.00991.x.


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

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • DNA Mutational Analysis
  • Female
  • Humans
  • Infant
  • Male
  • Mutation*
  • Neoplasm Proteins*
  • Polymerase Chain Reaction
  • Proto-Oncogene Proteins / genetics*
  • Radius / abnormalities*
  • Receptors, Cytokine*
  • Receptors, Thrombopoietin
  • Syndrome
  • Thrombocytopenia / congenital*
  • Thrombocytopenia / genetics*


  • Neoplasm Proteins
  • Proto-Oncogene Proteins
  • Receptors, Cytokine
  • Receptors, Thrombopoietin
  • MPL protein, human