Journal Article

PLS3 Mutations in X-Linked Osteoporosis with Fractures

Bijman, Renate, Uitterlinden, André G, Hofman, Albert, Harsevoort, Arjan J, Rubio-Gozalbo, M. Estela, Simon, Marleen E.H, de Die-Smulders, Christine E, Semeins, Cor M, te Meerman, Gerard J, Zillikens, M. Carola, Pruijs, Hans E, Riessland, Markus, Wirth, Brunhilde, Egthuijsen, Jaqueline, Everts, Vincent, Pals, Gerard, Sistermans, Erik A, Meijers-Heijboer, Hanne, Marcelis, Carlo L.M, Maugeri, Alessandra, Moutaouakil, Youssef, Waisfisz, Quinten, Hammerschmidt, Matthias, Lichtenbelt, Klaske D, Klein-Nulend, Jenneke, van Dijk, Fleur S, Milbradt, Janine, Verkerk, Annemieke J.M.H, Franken, Anton A, Zwertbroek, Rolf, Campos-Obando, Natalia, Bakker, Astrid D, Micha, Dimitra

2013

Overview

The authors report data from five families with pathogenic variants in the gene for plastin 3, PLS3. Findings in these families and in zebrafish indicate that plastin 3, an actin-bundling protein, may be important in human bone health. Summary Plastin 3 (PLS3), a protein involved in the formation of filamentous actin (F-actin) bundles, appears to be important in human bone health, on the basis of pathogenic variants in PLS3 in five families with X-linked osteoporosis and osteoporotic fractures that we report here. The bone-regulatory properties of PLS3 were supported by in vivo analyses in zebrafish. Furthermore, in an additional five families (described in less detail) referred for diagnosis or ruling out of osteogenesis imperfecta type I, a rare variant (rs140121121) in PLS3 was found. This variant was also associated with a risk of fracture among elderly heterozygous women . . .

• Publisher: Massachusetts Medical Society
• Subject: Actin / Adult / Animals / Biological and medical sciences / Bone Density - genetics / Bone Remodeling - genetics / Bones / Child / Child, Preschool / Diseases of the osteoarticular system / Female / Fibroblasts / Fractures / Fractures, Bone - etiology / Fractures, Bone - genetics / General aspects / Genetic Diseases, X-Linked - genetics / Genetic diversity / Geriatrics / Heterozygote / Humans / Injuries of the limb. Injuries of the spine / Male / Medical sciences / Membrane Glycoproteins - genetics / Microfilament Proteins - genetics / Mutation / Osteogenesis / Osteogenesis imperfecta / Osteoporosis / Osteoporosis - complications / Osteoporosis - genetics / Osteoporosis. Osteomalacia. Paget disease / Patients / Pedigree / Polymorphism, Single Nucleotide / Risk Factors / Traumas. Diseases due to physical agents / Women / Young Adult / Zebrafish