Molecular Genetic Factors in the Development of Connective Tissue Dysplasia: Collagenopathies

Relevance. Connective tissue development disorders are characterized by a wide polymorphism of clinical manifestations. Complications that develop on their basis often have severe consequences and significantly worsen the patient's quality of life. Clinical diagnostics of hereditary connective tissue dysplasias is quite a complex task, due to the wide range of clinical manifestations, but also an important part of successful diagnostics. One of the common variants of connective tissue dysplasia is collagenopathies. Objective: to analyze the molecular genetic causes of collagenopathies and determine the features of their clinical manifestation. Results. The molecular genetic basis for the development of collagenopathies is analyzed. Modern concepts of the structure of connective tissue, its functions and the formation of collagen fibers are considered. Clinical features of various variants of syndromic collagenopathies, their molecular genetic causes and functions of 28 types of collagen are shown. The main non-syndromic types of collagenopathies are given. Conclusion. Diagnosis of hereditary pathology, in particular, variants of collagen fiber structure disorder, is a rather complex task, and the final diagnosis is determined using expensive DNA diagnostics. In this regard, understanding the clinical features and molecular genetic basis of hereditary collagenopathies, as well as their systematization for successful diagnosis and timely effective treatment, is of particular importance.