title: Genetic Determinism of Primary Early-Onset Osteoarthritis.
abstract: Osteoarthritis (OA) is the most common joint disease worldwide. A minority of cases correspond to familial presentation characterized by early-onset forms which are genetically heterogeneous. This review brings a new point of view on the molecular basis of OA by focusing on gene mutations causing early-onset OA (EO-OA). Recently, thanks to whole-exome sequencing, a gain-of-function mutation in the TNFRSF11B gene was identified in two distant family members with EO-OA, opening new therapeutic perspectives for OA. Indeed, unraveling the molecular basis of rare Mendelian OA forms will improve our understanding of molecular processes involved in OA pathogenesis and will contribute to better patient diagnosis, management, and therapy.
authors.affiliation: Normandie Université, 14032 Caen, France; Université de Caen Normandie (UNICAEN), EA4652 Microenvironnement Cellulaire et Pathologies (MILPAT), BIOCONNECT Team, 14032 Caen, France. Electronic address: juliette.aury-landas@unicaen.fr.
authors.forename: Juliette
authors.initials: J
authors.lastname: Aury-Landas
authors.affiliation: Normandie Université, 14032 Caen, France; UNICAEN, COMETE, 14032 Caen, France; Institut National de la Santé et de la Recherche Médicale (INSERM) Unité 1075, COMETE, 14032 Caen, France; Centre Hospitalier Universitaire de Caen, Department of Rheumatology, 14000 Caen, France.
authors.forename: Christian
authors.initials: C
authors.lastname: Marcelli
authors.affiliation: Normandie Université, 14032 Caen, France; Université de Caen Normandie (UNICAEN), EA4652 Microenvironnement Cellulaire et Pathologies (MILPAT), BIOCONNECT Team, 14032 Caen, France; Service de Chirurgie Orthopédique, Clinique Saint-Martin, Caen, France.
authors.forename: Sylvain
authors.initials: S
authors.lastname: Leclercq
authors.affiliation: Normandie Université, 14032 Caen, France; Université de Caen Normandie (UNICAEN), EA4652 Microenvironnement Cellulaire et Pathologies (MILPAT), BIOCONNECT Team, 14032 Caen, France.
authors.forename: Karim
authors.initials: K
authors.lastname: Boumédiene
authors.affiliation: Normandie Université, 14032 Caen, France; Université de Caen Normandie (UNICAEN), EA4652 Microenvironnement Cellulaire et Pathologies (MILPAT), BIOCONNECT Team, 14032 Caen, France. Electronic address: catherine.bauge@unicaen.fr.
authors.forename: Catherine
authors.initials: C
authors.lastname: Baugé
mesh_terms: D017668:Age of Onset; D000818:Animals; D002356:Cartilage / Q000378:metabolism; D003094:Collagen / Q000235:genetics; D020022:Genetic Predisposition to Disease; D006801:Humans; D009154:Mutation; D010003:Osteoarthritis / Q000235:genetics*; D053244:Osteoprotegerin / Q000235:genetics
chemical_list: D053244:Osteoprotegerin; C506030:TNFRSF11B protein, human; D003094:Collagen
keywords: early-onset osteoarthritis; genetics; mutation