Juvenile Paget's Disease: The Second Reported, Oldest Patient Is Homozygous for the <i>TNFRSF11B</i> “Balkan” Mutation (966_969delTGACinsCTT), Which Elevates Circulating Immunoreactive Osteoprotegerin Levels

Abstract excerpt

UNLABELLED: The oldest person (60 yr) with juvenile Paget's disease is homozygous for the TNFRSF11B mutation 966_969delTGACinsCTT. Elevated circulating levels of immunoreactive OPG and soluble RANKL accompany this genetic defect that truncates the OPG monomer, preventing formation of OPG homodimers. INTRODUCTION: Juvenile Paget's disease (JPD), a rare autosomal recessive disorder, features skeletal pain,...

Topics

Share this publication in a Topic to start or enrich a Post.

• Share to Bone health and treatments
• Share to Bone Metabolism and Diseases
• Share to Cancer and Skin Lesions