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 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.
Strippoli
P
P
Institute of Histology and Embryology, University of Bologna, Italy.
Savoia
A
A
Iolascon
A
A
Tonelli
R
R
Savino
M
M
Giordano
P
P
D'Avanzo
M
M
Massolo
F
F
Locatelli
F
F
Borgna
C
C
De Mattia
D
D
Zelante
L
L
Paolucci
G
G
Bagnara
G P
GP
D000293:Adolescent; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D009363:Neoplasm Proteins; D016133:Polymerase Chain Reaction; D011518:Proto-Oncogene Proteins / Q000235:genetics*; D011884:Radius / Q000002:abnormalities*; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; D013577:Syndrome; D013921:Thrombocytopenia / Q000151:congenital* / Q000235:genetics*
D009363:Neoplasm Proteins; D011518:Proto-Oncogene Proteins; D018121:Receptors, Cytokine; D053628:Receptors, Thrombopoietin; C082218:MPL protein, human