ArticleEuropean journal of human genetics : EJHG2024
Clinical spectrum of rare bone fragility disorders and response to bisphosphonate treatment: a retrospective study.
Article in European journal of human genetics : EJHG, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Fracture risk assessment by dual-energy absorptiometry in osteogenesis imperfecta: A systematic review of measurement sites and its predictive value.Bone reports · 2026Review
- Pathogenesis and precision management of osteogenesis imperfecta: from genetic mechanisms to novel therapies.World journal of pediatrics : WJP · 2026Review
- Functional validation using a zebrafish model reclassifies the rare COL1A2 p.Gly418Ala variant as a cause of Osteogenesis Imperfecta.Scientific reports · 2026Article
- Article
- Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.Journal of endocrinological investigation · 2026Article
- New guidelines for rare cancer syndromes.European journal of human genetics : EJHG · 2024Article
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Authors and funding
12 authors.
Funding
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Abstract
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. Treatment is based on the use of bisphosphonates and though it is well established that they increase lumbar spine (LS) bone mineral density (BMD), the clinical impact on fracture reduction is still debated.In this study, we investigated the clinical characteristics of 38 patients with a bone fragility disorder that had variants in non-COL1A1/COL1A2 genes in order to study genotype-phenotype correlations, as the natural history of these rare forms is still not well known. We then studied the usefulness of bisphosphonate treatment by evaluating the effects on LS BMD, annual non-vertebral fracture rate, bone turnover markers and height. This study enabled us to better define the natural history of patients with non-COL1 pathogenic variants. Patients with CRTAP and TMEM38B variants consistently had a prenatal presentation with a short (<3
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