ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2017
Molecular diagnosis in children with fractures but no extraskeletal signs of osteogenesis imperfecta.
Article in Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 41 citations in OpenAlex.
- Dose matters: haploinsufficiency in osteogenesis imperfecta.Nature reviews. Endocrinology · 2026Review
- Genetic landscape and phenotypic spectrum of osteogenesis imperfecta in the Kazakhstani pediatric population.Scientific reports · 2025Article
- Idiopathic juvenile osteoporosis-a polygenic disorder?JBMR plus · 2024Article
- Exome sequencing identified mutations in the WNT1 and COL1A2 genes in osteogenesis imperfecta cases.Molecular biology reports · 2024Article
- Diagnosis and Management of Osteoporosis in Children and Adolescents.Ewha medical journal · 2023Review
- Genetic Diagnostics in Routine Osteological Assessment of Adult Low Bone Mass Disorders.The Journal of clinical endocrinology and metabolism · 2022Article
- Case report: Early-onset osteoporosis in a patient carrying a novel heterozygous variant of theFrontiers in endocrinology · 2022Article
- Plastin 3 in health and disease: a matter of balance.Cellular and molecular life sciences : CMLS · 2021Review
- Fetal Fractures in an Infant with Maternal Ehlers-Danlos Syndrome, CCDC134 Pathogenic Mutation and a Negative Genetic Test for Osteogenesis Imperfecta.Children (Basel, Switzerland) · 2021Article
- Diagnostic utility of next-generation sequence genetic panel testing in children presenting with a clinically significant fracture history.Archives of osteoporosis · 2021Observational
- A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.Molecular genetics & genomic medicine · 2020Article
- A Contemporary View of the Definition and Diagnosis of Osteoporosis in Children and Adolescents.The Journal of clinical endocrinology and metabolism · 2020Article
- Management of primary and secondary osteoporosis in children.Therapeutic advances in musculoskeletal disease · 2020Review
- Review
- Genetic approaches to metabolic bone diseases.British journal of clinical pharmacology · 2019Review
- Gene mutation spectrum and genotype-phenotype correlation in a cohort of Chinese osteogenesis imperfecta patients revealed by targeted next generation sequencing.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2017Article
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6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
In 26 of 94 individuals (28%) below 21 years of age who had a significant fracture history but did not have extraskeletal features of osteogenesis imperfecta (OI), we detected disease-causing mutations in OI-associated genes.
introductionIn children who have mild bone fragility but do not have extraskeletal features of OI, it can be difficult to establish a diagnosis on clinical grounds. Here, we assessed the diagnostic yield of genetic testing in this context, by sequencing a panel of genes that are associated with OI.
methodsDNA sequence analysis was performed on 94 individuals below 21 years of age who had a significant fracture history but had white sclera and no signs of dentinogenesis imperfecta.
resultsDisease-causing variants were detected in 28% of individuals and affected 5 different genes. Twelve individuals had mutations in COL1A1 or COL1A2, 8 in LRP5, 4 in BMP1, and 2 in PLS3.
conclusionsDNA sequence analysis of currently known OI-associated genes identified disease-causing variants in more than a quarter of individuals with a significant fracture history but without extraskeletal manifestations of OI.
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