Identification of c.683_684insCTGCAAGGACAAATCTGACGA pathogenic variant of the low-density lipoprotein receptor gene in a patient with familial hypercholesterolemia: a case report

Abstract

Familial hypercholesterolemia (FH) is one of the most common monogenic diseases that leads to the early development of atherosclerosis and is characterized by a poor prognosis. However, only about 1% of FH cases are diagnosed in Russia. The aim of this study was to determine the genetic defect in the FH family and conduct DNA diagnostics in the proband relatives. The study was performed on blood samples obtained with the informed consent of the patients. Polymerase chain reaction and polyacrylamide gel electrophoresis were used. We report c.683_684insCTGCAAGGA CAAATCTGACGA pathogenic variant of the low-density lipoprotein receptor (LDLR) gene for the first time in Russia and demonstrate its cosegregation in a family with high blood cholesterol. The c.683_684in sCTGCAAGGACAAATCTGACGA insertion is considered as a probable cause of FH.