Genetic and Epigenetic Aspects of Crouzon's Syndrome

摘要

Crouzon's syndrome is a genetic disorder characterized by a distinctive malformation of the skull and facial region resulting from the premature fusion of the cranial sutures, abnormal growth of bones, and facial deformities caused by the underdevelopment of the midfacial region and hypertelorism. This syndrome is rare, with a prevalence of 16 cases among every million births worldwide. Mutations in the gene encoding fibroblast growth factor receptor 2 (FGFR2) have been identified as the main causative factors of autosomal dominant Crouzon's syndrome. However, Crouzon's syndrome may emerge as the result of a de novo mutation, in addition to its transmission as an autosomal dominant genetic condition. Crouzon's syndrome may also result from epigenetic mechanisms, such as a decrease in microRNA-338 expression that promotes increases FGFR2 expression and, consequently, enhanced osteoblast differentiation. This work aims to briefly review Crouzon's syndrome in the context of its genetic and epigenetic aspects, with the aim of allowing clinicians to more readily predict a patient's orthopedic condition before initiating orthodontic treatment.