The role of genetic disorders in the formation of disabling effects in the premature newborn

A clinical case of primary congenital glaucoma, respiratory distress syndrome, bronchopulmonary dysplasia, retinopathy and periventricular leukomalacia in a premature newborn is presented. The search for pathogenic variants by the method of new generation whole exome sequencing was performed. The genes of surfactant proteins, genes associated with angiogenesis, renin-angiotensin and antioxidant systems were analyzed, considering the data on the multifactorial etiology of the studied complications. The molecular genetic factors for congenital glaucoma development in the premature newborn were revealed: p.E229K CYP1B1 and p.R76K MYOC, as well as polymorphisms in the genes of surfactant proteins SFTPB (rs1130866, VNTR intron 4) and SFTPC (rs4715, rs1124), vascular endothelial growth factor VEGFA (rs2010963), nitric oxide synthase 3 NOS3 (rs1799983), insulin growth factor binding protein 3 IGFBP3 (rs2854746), catalase CAT (rs7943316), associated with the development of the studied disabling complications in the premature newborn.

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