Article
PLS3 Deletions Lead to Severe Spinal Osteoporosis and Disturbed Bone Matrix Mineralization.
Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research - 1 Dec 2017
Kämpe Anders J, Costantini Alice, Levy-Shraga Yael, Zeitlin Leonid, Roschger Paul, Taylan Fulya, Lindstrand Anna, Paschalis Eleftherios P, Gamsjaeger Sonja, Raas-Rothschild Annick, Hövel Matthias, Jiao Hong, Klaushofer Klaus, Grasemann Corinna, Mäkitie Outi
Abstract excerpt
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...
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