High Bone Mass Disorders: New Insights From Connecting the Clinic and the Bench.

ABSTRACT: 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. We discuss how functional genomics can shape discovery of novel HBM genes and/or mechanisms in the future, through implementation of omics assessments in existing and future model systems.

SUBMITTER: Bergen DJM 

PROVIDER: S-EPMC10092806 | biostudies-literature | 2023 Feb

REPOSITORIES: biostudies-literature