Anders J Kämpe, Alice Costantini, Yael Levy-Shraga, Leonid Zeitlin, Paul Roschger, Fulya Taylan, Anna Lindstrand, Eleftherios P Paschalis, Sonja Gamsjaeger, Annick Raas-Rothschild, Matthias Hövel, Hong Jiao, Klaus Klaushofer, Corinna Grasemann, Outi Mäkitie
Mutations in the PLS3 gene, encoding Plastin 3, were described in 2013 as a cause for X-linked primary bone fragility in children. The specific role of PLS3 in bone metabolism remains inadequately understood. Here we describe for the first time PLS3 deletions as the underlying cause for childhood-onset primary osteoporosis in 3 boys from 2 families. We carried out thorough clinical, radiological, and bone tissue analyses to explore the consequences of these deletions and to further elucidate the role of PLS3 in bone homeostasis...
December 2017: Journal of Bone and Mineral Research