ArticleMolecular genetics & genomic medicine2020
A novel mutation in PLS3 causes extremely rare X-linked osteogenesis imperfecta.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 16 citations in OpenAlex.
- 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
- Medical Care Use Among Patients with Monogenic Osteoporosis Due to Rare Variants in LRP5, PLS3, or WNT1.Calcified tissue international · 2023Article
- Classification of osteogenesis imperfecta: Importance for prophylaxis and genetic counseling.World journal of clinical cases · 2023Review
- 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
- X-linked osteogenesis imperfecta accompanied by patent ductus arteriosus: a case with a novel splice variant in PLS3.World journal of pediatrics : WJP · 2022Article
- Curative Cell and Gene Therapy for Osteogenesis Imperfecta.Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research · 2022Review
- Article
- Plastin 3 in health and disease: a matter of balance.Cellular and molecular life sciences : CMLS · 2021Review
- Plastin 3 in X-Linked Osteoporosis: Imbalance of CaFrontiers in cell and developmental biology · 2020Review
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Authors and funding
9 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundOsteogenesis imperfecta (OI) is a phenotypically and genetically heterogeneous bone disease characterized by bone fragility and recurrent fractures. X-linked inherited OI with mutation in PLS3 is so rare that its genotype-phenotype characteristics are not available.
methodsWe designed a novel targeted next-generation sequencing (NGS) panel with the candidate genes of OI to detect pathogenic mutations and confirmed them by Sanger sequencing. The phenotypes of the patients were also investigated.
resultsThe proband, a 12-year-old boy from a nonconsanguineous family, experienced multiple fractures of long bones and vertebrae and had low bone mineral density (BMD Z-score of -3.2 to -2.0). His younger brother also had extremity fractures. A novel frameshift mutation (c.1106_1107insGAAA; p.Phe369Leufs*5) in exon 10 of PLS3 was identified in the two patients, which was inherited from their mother who had normal BMD. Blue sclerae were the only extraskeletal symptom in all affected individuals. Zoledronic acid was beneficial for increasing BMD and reshaping the compressed vertebral bodies of the proband.
conclusionWe first identify a novel mutation in PLS3 that led to rare X-linked OI and provide practical information for the diagnosis and treatment of this disease.
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