Journal of Clinical Pediatrics ›› 2024, Vol. 42 ›› Issue (2): 164-170.doi: 10.12372/jcp.2024.23e0827

• Literature Review • Previous Articles     Next Articles

New advances in the study of cartilage extracellular matrix gene regulation and genetic defects

Reviewer: JIN Yuyu, Reviser: LUO Feihong   

  1. Department of Pediatric Endocrinology and Inherited Metabolic Diseases, Children's Hospital of Fudan University, Shanghai 201102, China
  • Received:2023-08-29 Online:2024-02-15 Published:2024-02-02


The formation and development of growth plate cartilage is a sophisticated biological phenomenon that is governed by a combination of extracellular matrix (ECM), intracellular signaling, paracrine signaling and endocrine signaling. The ECM plays a critical role in providing structural support to chondrocytes and acts as a mediator for the transport of growth factors and associated signaling molecules that control chondrocyte growth and development. This review provides a comprehensive examination of the composition and physiological role of the cartilage ECM, explores the impact of pathogenic variants in genes responsible for encoding the cartilage ECM on skeletal development, investigates the specific phenotypes associated with such defects and establishes a correlation between pathogenic gene variants and phenotypic outcomes aiming to provide novels insights for clinical diagnosis and managements.

Key words: chondrocyte, growth plate, extracellular matrix, skeletal dysplasia, genetically defective disorder