IMPE Abstracts

Background: Aggrecan (encoded by ACAN gene) is a significant proteoglycan that is an important component of the cartilage extracellular matrix, and plays a vital role in cartilage and bone morphogenesis. Pathogenic ACAN gene loss‐of‐function variants have been associated with various short stature and bone dysplasia.Objective: We observed the clinical and genetic characteristics of fourteen patients with ACAN v...

Background and object: C-type natriuretic peptide (CNP) and its receptor Atrial natriuretic peptide receptor 2 (NPR2) are expressed in the hypertrophic region of the growth plate and are major regulators of endochondral ossification. CNP-NPR2 stimulates the synthesis of chondrocytes and cartilage matrix and promotes growth plate development. Heterozygous loss-of-function variants in NPR2 gene cause short stature with nonspecific skeletal abnormalities (OMIM#61...