Cell-Dependent Pathogenic Roles of Filamin B in Different Skeletal Malformations

Figure 8

Schematic diagram of potential molecular mechanisms underlying the pathogenesis of two novel FLNB missense variants. Two novel FLNB variants caused two different skeletal malformations through regulating the expression and transcriptional activity of Runx2 in a cell-dependent way. In LRS, increased expression of Runx2 may promote osteogenesis and condensation, which further leads to supernumerary ossification and early closure of epiphyses. In VDDR, the expression of Runx2 was significantly impaired, thus worsening skeletal dysplasia of the patient. Affected signaling pathways were labeled in red.