Molecular diagnosis of hereditary connective tissue diseases

Abstract

Hereditary connective tissue diseases are a large group of genetically and clinically heterogeneous diseases whose development is caused by mutations in the genes responsible for the synthesis of extracellular matrix proteins or involved in connective tissue morphogenesis. This article is devoted to the results of the search for the molecular genetic causes of the rare hereditary connective tissue diseases: Ehlers-Danlos syndrome, osteogenesis imperfecta and osteopetrosis. Diagnosis of these pathologies is difficult because of the similarity of symptoms and their clinical manifestations. The presented results will expand the understanding of the pathogenesis and will allow to optimize the diagnosis of these syndromes, to determine the tactics of medical and genetic counseling of burdened families by both clinical geneticists, orphan disease specialists, and general practitioners, family medicine specialists, and general practitioners.