<i>ACAN</i> mutations as a cause of familial short stature

Abstract

Aggrecan, encoded by <i>ACAN</i>, is a major proteoglycan component of the extracellular matrix in the growth plate and articular cartilage. Aggrecan provides the hydrated gel structure important for the load-bearing properties of joints and plays a key role in cartilage and bone morphogenesis. At least 25 pathological <i>ACAN</i> mutations have been identified in patients with highly variable phenotypes of syndromic or non-syndromic short stature. This review provides an overview of the current understanding of <i>ACAN</i> and the clinical and genetic findings concerning aggrecan-associated diseases.