The GP1BB gene is localized on 22q11·21 and has two exons, both contributing to the 206 residues of the open reading frame. In the mature protein, the extracellular region is characterized by a single Leucine‐rich repeat (LRR) domain flanked by the Leucine‐rich repeat N‐terminal (LRR...
We report here a further case of this mutation in another family, where the father and son present a constitutional macrothrombocytopenia associated with a heterozygous mutation in the GP1BB gene domain. The 44‐year‐old father had been referred to our department to explore a thrombocytopenia ...
Ontogenez, 2006, 37(1): 12-19. [4] RUSSELL T, TISDALE MJ. The role of glucocorticoids in the induction of zinc-alpha2-glycoprotein expression in adipose tissue in cancer cachexia [J]. Br J Cancer, 2005, 92(5): 876-881. [5] BURDELSKI C, KLEINHANS S, KLUSH M, et al. ...
New heterozygous variant in GP1BB gene is responsible for an inherited form of macrothrombocytopenia.doi:10.1111/bjh.15176Silvia FerrariAnna M. LombardiIrene CortellaMaria A. BusinaroAntonella BertomoroIrene Di PasqualeFabrizio FabrisJohn Wiley & Sons, Ltd (10.1111)...
A 15-month-old girl without bleeding symptoms had giant platelets and thrombocytopenia. Physical findings and macrothrombocytopenia suggested 22q11.2DS, which was confirmed by fluorescence in situ hybridization. Flow cytometry showed decreased GPIbα on the platelets. Gene panel testing revealed a novel...