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

P Strippoli; A Savoia; A Iolascon; R Tonelli; M Savino; P Giordano; M D'Avanzo; F Massolo; F Locatelli; C Borgna; D De Mattia; L Zelante; G Paolucci; G P Bagnara

doi:10.1046/j.1365-2141.1998.00991.x

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.

Authors

P Strippoli¹, A Savoia, A Iolascon, R Tonelli, M Savino, P Giordano, M D'Avanzo, F Massolo, F Locatelli, C Borgna, D De Mattia, L Zelante, G Paolucci, G P Bagnara

Affiliation

¹ Institute of Histology and Embryology, University of Bologna, Italy.

PMID: 9827898
DOI: 10.1046/j.1365-2141.1998.00991.x

Abstract

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*

Substances

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