MUTATIONS IN FIBRONECTIN IMPAIR CHONDROGENESIS IN CORNER FRACTURE TYPE SPONDYLOMETAPHYSEAL DYSPLASIA

The study aims to investigate molecular consequences of mutations in matrix glycoprotein fibronectin (FN) in pathological condition corner fracture type spondylometaphyseal dysplasia (SMDCF). SMDCF is a rare group of skeletal dysplasia wherein the patients are characterized by severe skeletal anomalies such as short stature, scoliosis , coxa vara, genu varum and more. To investigate the molecular mechanism underlying the pathogenesis of SMDCF, we analyzed the cellular transcriptome of SMDCF patient using next generation RNA sequencing on iPSC derived mesenchymal stem cells and chondrocytes.