RNAseq of periosteal stem/progenitor cells from patients with congenital pseudarthrosis of the tibia. 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. Overall design: 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.