Osteoporos Int. 2021 Apr 2.doi: 10.1007/s00198-021-05933-3.
Introduction: Osteogenesis imperfecta (OI) is a rare disorder with variable clinical presentation, commonly caused by mutations in collagen type I genes. OI affects both bone quality and density resulting in fractures and deformity. The effectiveness of bisphosphonates in the treatment of adult OI remains unclear. Small, randomised trials have shown increases in BMD, but without fracture rate reduction.
Aim: We report the results of BMD of a family harbouring C 613 C>G substitution in exon 8 of Col1A1 gene leading to Pro205Ala missense variant, as well as the results of long term treatment of a mother and daughter with this mutation.