ArticleThe Journal of clinical endocrinology and metabolism2022
Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.
Article in The Journal of clinical endocrinology and metabolism, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 28 citations in OpenAlex.
- Low alkaline phosphatase in adults: implications for the diagnosis of hypophosphatasia during evaluation for osteoporosis.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- [Metabolic bone disorders: what the internist must not overlook].Innere Medizin (Heidelberg, Germany) · 2026Review
- Romosozumab is effective in patients with variants in LRP5, LRP6, or WNT1.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2026Article
- Molecular spectrum of autosomal recessive osteogenesis imperfecta in 93 Italian children with bone fragility: a monocentric experience.Journal of endocrinological investigation · 2026Article
- Genetics and Vitamin D Interactions in Osteoporosis: A Path to Precision Medicine.Journal of cellular and molecular medicine · 2025Review
- 'Bone Health-Across a Woman's Lifespan'.Clinical endocrinology · 2025Review
- Article
- Paradoxical combination of osteosclerosis and osteopenia in an adult woman with biallelicJBMR plus · 2025Article
- Early-Onset Osteoporosis: Molecular Analysis in Large Cohort and Focus on the PLS3 Gene.Calcified tissue international · 2024Article
- The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association · 2024Review
- Genetic Evaluation for Monogenic Disorders of Low Bone Mass and Increased Bone Fragility: What Clinicians Need to Know.Current osteoporosis reports · 2024Review
- Artificial Intelligence Applications for Osteoporosis Classification Using Computed Tomography.Bioengineering (Basel, Switzerland) · 2023Review
- Transition from Pediatric to Adult Health Care in Osteogenesis Imperfecta.Current osteoporosis reports · 2023Review
- Fracture healing in a mouse model of Hajdu-Cheney-Syndrome with high turnover osteopenia results in decreased biomechanical stability.Scientific reports · 2023Article
- Approach to the Patient: Pharmacological Therapies for Fracture Risk Reduction in Adults With Osteogenesis Imperfecta.The Journal of clinical endocrinology and metabolism · 2023Review
- Prevalence of Monogenic Bone Disorders in a Dutch Cohort of Atypical Femur Fracture Patients.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2023Article
- A Prediction Model for Osteoporosis Risk Using a Machine-Learning Approach and Its Validation in a Large Cohort.Journal of Korean medical science · 2023Article
- Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.The Journal of clinical endocrinology and metabolism · 2022Article
Corrections and comments
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Authors and funding
19 authors at 6 institutions in 1 country.
Funding
Abstract
contextMany different inherited and acquired conditions can result in premature bone fragility/low bone mass disorders (LBMDs).
objectiveWe aimed to elucidate the impact of genetic testing on differential diagnosis of adult LBMDs and at defining clinical criteria for predicting monogenic forms.
methodsFour clinical centers broadly recruited a cohort of 394 unrelated adult women before menopause and men younger than 55 years with a bone mineral density (BMD) Z-score < -2.0 and/or pathological fractures. After exclusion of secondary causes or unequivocal clinical/biochemical hallmarks of monogenic LBMDs, all participants were genotyped by targeted next-generation sequencing.
resultsIn total, 20.8% of the participants carried rare disease-causing variants (DCVs) in genes known to cause osteogenesis imperfecta (COL1A1, COL1A2), hypophosphatasia (ALPL), and early-onset osteoporosis (LRP5, PLS3, and WNT1). In addition, we identified rare DCVs in ENPP1, LMNA, NOTCH2, and ZNF469. Three individuals had autosomal recessive, 75 autosomal dominant, and 4 X-linked disorders. A total of 9.7% of the participants harbored variants of unknown significance. A regression analysis revealed that the likelihood of detecting a DCV correlated with a positive family history of osteoporosis, peripheral fractures (> 2), and a high normal body mass index (BMI). In contrast, mutation frequencies did not correlate with age, prevalent vertebral fractures, BMD, or biochemical parameters. In individuals without monogenic disease-causing rare variants, common variants predisposing for low BMD (eg, in LRP5) were overrepresented.
conclusionThe overlapping spectra of monogenic adult LBMD can be easily disentangled by genetic testing and the proposed clinical criteria can help to maximize the diagnostic yield.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.