Genetic architecture of osteogenesis imperfecta in the Republic of Bashkortostan

Abstract

Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous hereditary disease of the connective tissue, which is based on genetic changes leading to a violation of the structure of bone tissue. 21 genes are involved in the pathogenesis of OI have been identified, but the degree of genetic heterogeneity of the disease has not yet been clarified. The aim of the study is to search for the molecular cause of OI and determine the type of inheritance and the clinical form of the disease based on the analysis of clinical genetic correlations.