Study of genetic heterogeneity of connective tissue dysplasias in children.

Abstract

Connective tissue dysplasias (CTD) are a genetically heterogeneous group of inherited diseases characterised by abnormalities in the structure and functions of the connective tissue. In the study group of children with CTD, a molecular genetic study using high-throughput sequencing (HTS) technology was performed. Pathogenic variants in the genes: FGFR3, COL3A1, PLOD2, FKBP14, EBP, ANO5 and SLC26A2 were identified in 14 patients. These mutations correlate with different clinical phenotypes ranging from classic Marfan syndrome to rare forms. The results highlight the genetic heterogeneity of CTD and the importance of a high-throughput sequencing for a personalised approach in the diagnosis and the prognosis of the disease.