Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study

• Published in: European journal of human genetics : EJHG Vol. 32; no. 12; pp. 1559 - 1566
• Main Authors: Charpié, Maëlle, Brunelle, Perrine, Baujat, Geneviève, Michot, Caroline, Van Gils, Julien, Leheup, Bruno, Schaefer, Élise, Koumakis, Eugénie, Pejin, Zagorka, Pinto, Graziella, Monnot, Sophie, Cormier-Daire, Valérie
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.12.2024; Nature Publishing Group
• Subjects: 59/36; 692/308/2056; 692/700/1720; Adolescent; Adult; Bioinformatics; Biomedical and Life Sciences; Biomedicine; Bisphosphonates; Bone Density - drug effects; Bone Density Conservation Agents - pharmacology; Bone Density Conservation Agents - therapeutic use; Bone mineral density; Bone turnover; Child; Child, Preschool; Collagen (type I); Collagen Type I - genetics; Cytogenetics; Diphosphonates - therapeutic use; Female; Femur; Fractures; Fractures, Bone - genetics; Gene Expression; Genotypes; Human Genetics; Humans; Male; Membrane Proteins - genetics; Osteogenesis imperfecta; Osteogenesis Imperfecta - drug therapy; Osteogenesis Imperfecta - genetics; Osteogenesis Imperfecta - pathology; Patients; Phenotypes; Retrospective Studies; Spine (lumbar); Vertebrae

Osteogenesis Imperfecta (OI) is a clinically and genetically heterogeneous group of diseases characterized by brittle bones. Though genetic mutations in COL1A1 and COL1A2 account for approximately 85–90% of OI cases, there are now more than twenty genes described, responsible for rare forms of OI. T...