ArticleInternational journal of endocrinology2018
Clinical, Genetics, and Bioinformatic Characterization of Mutations Affecting an Essential Region of
Article in International journal of endocrinology, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 14 citations in OpenAlex.
- Gene-based burden testing implicates four novel susceptibility genes associated with isolated short stature in pediatric patients.World journal of pediatrics : WJP · 2026Article
- Phenotypic and genetic characteristics of a Dutch cohort of patients with X-linked osteoporosis due toJBMR plus · 2025Article
- FLNB haploinsufficiency-related short stature: a new syndrome or an expanded spectrum of Larsen syndrome.World journal of pediatrics : WJP · 2024Article
- PLS3 Mutations in X-Linked Osteoporosis: Clinical and Genetic Features in Five New Families.Calcified tissue international · 2024Article
- Current Status of Next-Generation Sequencing in Bone Genetic Diseases.International journal of molecular sciences · 2023Review
- 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
- Article
- Plastin 3 in health and disease: a matter of balance.Cellular and molecular life sciences : CMLS · 2021Review
- Mechanisms of Bone Fragility: From Osteogenesis Imperfecta to Secondary Osteoporosis.International journal of molecular sciences · 2021Review
- 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
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Authors and funding
11 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundBone mineral density quantitative trait locus 18 (BMND18, OMIM #300910) is a type of early-onset osteogenesis imperfecta (OI) caused by loss-of-function mutations in the PLS3 gene, which encodes plastin-3, a key protein in the formation of actin bundles throughout the cytoskeleton. Here, we report a patient with PLS3 mutation caused BMND18 and evaluated all the reported disease-causing mutations by bioinformatic analysis.
methodsTargeted gene sequencing was performed to find the disease-causing mutation in our patient. Bioinformatic analyses mainly including homology modelling and molecular dynamics stimulation were conducted to explore the impact of the previously reported mutations on plastin-3.
resultsGene sequencing showed a novel nonsense mutation (c.745G > T, p.E249X), which locates at a highly conserved region containing residues p.240-266 (LOOP-1) in the PLS3 gene. Further bioinformatic analyses of the previously reported mutations revealed that LOOP-1 is predicted to physically connect the calponin-homology 1 (CH1) and CH2 domains of the ABD1 fragment and spatially locates within the interface of ABD1 and ABD2. It is crucial to the conformation transition and actin-binding function of plastin-3.
conclusionsThis report identified a novel mutation that truncates the PLS3 gene. Moreover, bioinformatic analyses of the previous reported mutations in
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