A novel mutation in collagen gene COL1A2 associated with transient regional osteoporosis.
Massimo VarennaC CrottiM T BonatiF ZucchiM GallazziR CaporaliPublished in: Osteoporosis international : a journal established as result of cooperation between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA (2021)
The present study describes a novel de novo heterozygous missense variant in COL1A2 gene, possibly inducing a propensity to trabecular microfractures. The recurrent symptomatic bone marrow oedema episodes could be the clinical picture consistent with the hypothesis of an inherited connective tissue disorder giving bone fragility.