Article
Hereditary thrombocythemia caused by a thrombopoietin (THPO) gain-of-function mutation associated with multiple myeloma and congenital limb defects.
Annals of hematology - 1 Jul 2012
Stockklausner Clemens, Echner Nicole, Klotter Anne-Christine, Hegenbart Ute, Dreger Peter, Kulozik Andreas E
Abstract excerpt
Hereditary thrombocythemia (HT) has been described as a rare benign disorder caused by mutations in the thrombopoietin (THPO) or the c-Mpl receptor genes. Here we report two families with HT resulting from a THPO c.13+1 G>C mutation in the splice donor of intron 3. In one family there were coexisting distal limb defects, whereas in the other one member developed early-onset multiple myeloma. These observations,...
Topics
- Adult
- Child
- Child, Preschool
- Family
- Female
- Genetic Association Studies
- Genotype
- Humans
- Limb Deformities, Congenital
- Male
- Middle Aged
- Multiple Myeloma
- Mutation
- Pedigree
- Thrombocytosis