A New Wnt1 Mutant Rat Model of Osteogenesis Imperfecta and Its Application in AAV9-Mediated Gene Therapy

Osteogenesis imperfecta (OI) is a genetically and clinically heterogeneous bone disorder, with more than 20 genes contributing to OI development. Previously, we identified WNT1 c.620G > A (p.Arg207His) mutation among Chinese patients with autosomal recessive OI (AR-OI). This study aims at investigating the causative role of WNT1 deficiency in OI and evaluate whether AAV-based gene therapy could ameliorate bone abnormalities. We generated and analyzed the Wnt1^(R207H/R207H) rat model. The...