ArticleOsteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA2017
A novel large fragment deletion in PLS3 causes rare X-linked early-onset osteoporosis and response to zoledronic acid.
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 19 papers.
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19 citing papers in PubMed, 31 citations in OpenAlex.
- X-linked Osteoporosis due to PLS3 Pathogenic Variant: Case Report on Zoledronic Acid Treatment in SiblingsJournal of clinical research in pediatric endocrinology · 2026Article
- Practical approach to the diagnosis, management, and treatment of pediatric patients with bone fragility: an expert opinion.Journal of endocrinological investigation · 2026Review
- Targeted Gene Sequencing in a Male Adult Diagnosed With X-Linked Osteoporosis Due to a Novel p.(Arg398Profs*2)JCEM case reports · 2025Article
- Phenotypic and genetic characteristics of a Dutch cohort of patients with X-linked osteoporosis due toJBMR plus · 2025Article
- PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.Calcified tissue international · 2024Article
- Bone fragility and osteoporosis in children and young adults.Journal of endocrinological investigation · 2024Review
- Osteoclast-specific Plastin 3 knockout in mice fail to develop osteoporosis despite dramatic increased osteoclast resorption activity.JBMR plus · 2024Article
- Article
- 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
- Plastin 3 in health and disease: a matter of balance.Cellular and molecular life sciences : CMLS · 2021Review
- Characterization of novel and large fragment deletions in exon 1 of the IL10RA gene in Chinese children with very early onset inflammatory bowel diseases.BMC gastroenterology · 2021Article
- A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.Molecular genetics & genomic medicine · 2020Article
- Plastin 3 in X-Linked Osteoporosis: Imbalance of CaFrontiers in cell and developmental biology · 2020Review
- Osteogenesis imperfecta mutations in plastin 3 lead to impaired calcium regulation of actin bundling.Bone research · 2020Article
- Bone biology: insights from osteogenesis imperfecta and related rare fragility syndromes.The FEBS journal · 2019Review
- A novel missense mutation inBioscience reports · 2019Article
- A novel frameshift deletion in PLS3 causing severe primary osteoporosis.Journal of human genetics · 2018Article
- Novel compound heterozygous mutations in SERPINH1 cause rare autosomal recessive osteogenesis imperfecta type X.Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA · 2018Article
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12 authors at 2 institutions in 1 country.
Funding
Abstract
We identified a novel large fragment deletion from intron 9 to 3'UTR in PLS3 (E10-E16del) in one Chinese boy with X-linked early-onset osteoporosis and vertebral fractures, which expanded the pathogenic spectrum of X-linked early-onset osteoporosis. Treatment with zoledronic acid was beneficial for increasing BMD and reshaping the vertebral bodies of this patient.
introductionX-linked early-onset osteoporosis is a rare disease, which is characterized by low bone mineral density (BMD), vertebral compression fractures (VCFs), and/or long bone fractures. We aimed to detect the phenotype and the underlying pathogenic mutation of X-linked early-onset osteoporosis in a boy from a nonconsanguineous Chinese family.
methodsWe investigated the pathogenic mutation of the patient with X-linked early-onset osteoporosis by targeted next-generation sequencing and confirmed it by Sanger sequencing. We also observed the effects of zoledronic acid on fracture frequency and BMD of the patient.
resultsLow BMD and multiple VCFs were the main phenotypes of X-linked early-onset osteoporosis. We identified a total of 12,229 bp deletion in PLS3, involving intron 9 to the 3'UTR (E10-E16 del). This large fragment deletion might be mediated by Alu repeats and microhomology of 26 bp at each breakpoint junction. Zoledronic acid treatment could significantly increase the Z-score of BMD and reshape the compressed vertebral bodies.
conclusionWe identified a large fragment deletion mutation in PLS3 for the first time and elucidated the possible mechanism of the deletion, which led to X-linked early-onset osteoporosis and multiple vertebral fractures. Our findings would enrich the etiology spectrum of this rare disease.
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