hrp0095p1-421 | Bone, Growth Plate and Mineral Metabolism | ESPE2022

Novel ACAN Variants in Eight Chinese Families with Short Stature and Literature Review

Deng Shuyun , Hou Lele , Xia Dan , Li Xiaojuan , Ouyang Nengtai , Liang Liyang

Context: ACAN gene is located at 15q26.1 and encodes aggrecan, which is a critical proteoglycan component of cartilage extracellular matrix. Heterozygous variants in ACAN are associated with short stature, premature growth cessation, and impaired bone maturation. A comprehensive understanding of the genetic and clinical characteristics of patients with ACAN mutations helps to improve the overall management of an individual.<p cla...