Modern diagnostic strategy for hereditary systemic skeletal dysplasias

Abstract

This study presents the results of a clinical-genetic analysis conducted on a cohort of 350 pediatric patients with hereditary systemic skeletal dysplasias. Diagnosis was confirmed using a variety of molecular genetic methods, including massively parallel sequencing. The findings provide a detailed analysis of the prevalence and genetic spectrum of monogenic hereditary systemic skeletal dysplasias in Russian patients. Furthermore, a strategy for clinical and molecular genetic diagnosis of hereditary systemic skeletal dysplasias in pediatric patients has been developed, significantly improving the ability to identify the molecular cause of the disease.