A Case Report of Short Stature Caused by COMP Gene In-Frame Mutation

Mutations in cartilage oligomeric matrix protein (COMP) and aggrecan (ACAN) genes have been confirmed to be pathogenic mechanisms of various skeletal dysplasias and short stature by disrupting cartilage matrix homeostasis and growth plate function. Although the incidence of whole-code mutations in COMP is low, it is often associated with severe phenotypes, such as pseudoachondroplasia. On the other hand, heterozygous mutations in the ACAN gene are more likely to manifest as familial short stature with abnormal bone age development.