ArticleFrontiers in endocrinology2018
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility.
Article in Frontiers in endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 31 citations in OpenAlex.
- Phenotypic and genetic characteristics of a Dutch cohort of patients with X-linked osteoporosis due toJBMR plus · 2025Article
- A cross-sectional study comparing machine learning and logistic regression techniques for predicting osteoporosis in a group at high risk of cardiovascular disease among old adults.BMC geriatrics · 2025Article
- Population structure, selection signal and introgression of gamecocks revealed by whole genome sequencing.Journal of animal science and biotechnology · 2025Article
- Analysis of a Series of 26 Cases With Prenatal Skeletal Dysplasia via Multiplatform Genetic Detection.Molecular genetics & genomic medicine · 2025Article
- Variability in performance of genetic-enhanced DXA-BMD prediction models across diverse ethnic and geographic populations: A risk prediction study.PLoS medicine · 2024Article
- Bone fragility and osteoporosis in children and young adults.Journal of endocrinological investigation · 2024Review
- PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.Calcified tissue international · 2024Article
- Copy Number Variation and Osteoporosis.Current osteoporosis reports · 2023Review
- Identification of copy number variants contributing to hallux valgus.Frontiers in genetics · 2023Article
- The intricate mechanism of PLS3 in bone homeostasis and disease.Frontiers in endocrinology · 2023Review
- Prenatal Cases Reflect the Complexity of theGenes · 2022Article
- Early-Onset Osteoporosis: Rare Monogenic Forms Elucidate the Complexity of Disease Pathogenesis Beyond Type I Collagen.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Review
- Early-Onset Osteoporosis.Calcified tissue international · 2022Review
- Article
- AnJBMR plus · 2021Article
- Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2021Article
- Exome Sequencing Reveals a Phenotype Modifying Variant in ZNF528 in Primary Osteoporosis With a COL1A2 Deletion.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2020Article
- A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.Molecular genetics & genomic medicine · 2020Article
- Article
- New Insights Into Monogenic Causes of Osteoporosis.Frontiers in endocrinology · 2019Review
Corrections and comments
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Authors and funding
10 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Early-onset osteoporosis is characterized by low bone mineral density (BMD) and fractures since childhood or young adulthood. Several monogenic forms have been identified but the contributing genes remain inadequately characterized. In search for novel variants and novel candidate loci, we screened a cohort of 70 young subjects with mild to severe skeletal fragility for rare copy-number variants (CNVs). Our study cohort included 15 subjects with primary osteoporosis before age 30 years and 55 subjects with a pathological fracture history and low or normal BMD before age 16 years. A custom-made high-resolution comparative genomic hybridization array with enriched probe density in >1,150 genes important for bone metabolism and ciliary function was used to search for CNVs. We identified altogether 14 rare CNVs. Seven intronic aberrations were classified as likely benign. Five CNVs of unknown clinical significance affected coding regions of genes not previously associated with skeletal fragility (
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