ESPE Abstracts

Background: Aggrecan (ACAN) is a proteoglycan found in the extracellular matrix of articular and growth plate cartilage. Animal studies have shown that mutations in the ACAN gene lead to premature hypertrophic chondrocyte maturation, causing accelerated cartilage ossification. Patients with ACAN deficiency present with dominantly inherited short stature, often with advanced skeletal maturation and premature growth cessation, as well as early-onset joint diseas...