Single nuclei RNAseq of the human periosteum 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 at the pseudarthrosis site. To understand the impact of NF1 mutation on the periosteum, we performed single nuclei RNAseq of pathological periosteum collected from the pseudarthrosis site and of non-pathological periosteum collected from the iliac crest of 3 CPT patients. Snap frozen periosteum samples were defrosted and mechanically disrupted to extract nuclei. Isolated nuclei were sorted and processed using 10X genomics technology.