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. Overall design: We determined the differentially expressed genes in control versus firbonectin mutant cells at mesenchymal stem cell stage and after differentiation into chondrocytes