RNAseq of periosteal stem/progenitor cells from patients with congenital pseudarthrosis of the tibia

Congenital pseudarthrosis of the tibia (CPT) is a severe pediatric disorder affecting children. CPT is characterized by tibial bowing at birth leading to spontaneous fracture and fibrous non-union. Our study showed the presence of biallelic inactivation of the NF1 gene in the periosteum and in periosteal skeletal/stem progenitor cells (pSSPCs) at the pseudarthrosis site. To understand the impact of NF1 mutation on pSSPCs, we performed RNAseq analysis of primary SSPCs from the pathological periosteum of the pseudarthrosis site and from the non-pathological periosteum collected from the iliac crest of 2 CPT patients.