Dylan J M Bergen, Antonio Maurizi, Melissa M Formosa, Georgina L K McDonald, Ahmed El-Gazzar, Neelam Hassan, Maria-Luisa Brandi, José A Riancho, Fernando Rivadeneira, Evangelia Ntzani, Emma L Duncan, Celia L Gregson, Douglas P Kiel, M Carola Zillikens, Luca Sangiorgi, Wolfgang Högler, Ivan Duran, Outi Mäkitie, Wim Van Hul, Gretl Hendrickx
Monogenic high bone mass (HBM) disorders are characterized by an increased amount of bone in general, or at specific sites in the skeleton. Here, we describe 59 HBM disorders with 50 known disease-causing genes from the literature, and we provide an overview of the signaling pathways and mechanisms involved in the pathogenesis of these disorders. Based on this, we classify the known HBM genes into HBM (sub)groups according to uniform Gene Ontology (GO) terminology. This classification system may aid in hypothesis generation, for both wet lab experimental design and clinical genetic screening strategies...
February 2023: Journal of Bone and Mineral Research