TY - JOUR
T1 - PLS3 mutations in X-linked osteoporosis with fractures
AU - Van Dijk, Fleur S.
AU - Zillikens, M. Carola
AU - Micha, Dimitra
AU - Riessland, Markus
AU - Marcelis, Carlo L.M.
AU - De Die-Smulders, Christine E.
AU - Milbradt, Janine
AU - Franken, Anton A.
AU - Harsevoort, Arjan J.
AU - Lichtenbelt, Klaske D.
AU - Pruijs, Hans E.
AU - Rubio-Gozalbo, M. Estela
AU - Zwertbroek, Rolf
AU - Moutaouakil, Youssef
AU - Egthuijsen, Jaqueline
AU - Hammerschmidt, Matthias
AU - Bijman, Renate
AU - Semeins, Cor M.
AU - Bakker, Astrid D.
AU - Everts, Vincent
AU - Klein-Nulend, Jenneke
AU - Campos-Obando, Natalia
AU - Hofman, Albert
AU - Te Meerman, Gerard J.
AU - Verkerk, Annemieke J.M.H.
AU - Uitterlinden, André G.
AU - Maugeri, Alessandra
AU - Sistermans, Erik A.
AU - Waisfisz, Quinten
AU - Meijers-Heijboer, Hanne
AU - Wirth, Brunhilde
AU - Simon, Marleen E.H.
AU - Pals, Gerard
PY - 2013
Y1 - 2013
N2 - 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 that was two times as high as that among noncarriers, which indicates that genetic variation in PLS3 is a novel etiologic factor involved in common, multifactorial osteoporosis.
AB - 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 that was two times as high as that among noncarriers, which indicates that genetic variation in PLS3 is a novel etiologic factor involved in common, multifactorial osteoporosis.
UR - https://www.scopus.com/pages/publications/84885755136
U2 - 10.1056/NEJMoa1308223
DO - 10.1056/NEJMoa1308223
M3 - Article
AN - SCOPUS:84885755136
SN - 0028-4793
VL - 369
SP - 1529
EP - 1536
JO - New England Journal of Medicine
JF - New England Journal of Medicine
IS - 16
ER -