Identification of pathogenic deletion c.925_931del of the low-density lipoprotein receptor (LDLR) gene, characteristic of Finnish Karelia, in a family with familial hypercholesterolemia in Petrozavodsk. A case report

Familial hypercholesterolemia (FH) is one of the most common monogenic diseases in humans, most often caused by defects in the low-density lipoprotein receptor (LDLR) gene. Early diagnosis of FH makes it possible to prevent cardiovascular diseases. We present a case of the detection of a seven-nucleotide deletion c.925_931del in the LDLR gene in a family from Petrozavodsk. This deletion is associated with high levels of total plasma cholesterol and low-density lipoprotein cholesterol. The second variant of the nucleotide sequence of the LDLR gene c.58G>A, detected in the same family, did not segregate with hypercholesterolemia. The detected deletion is the cause of FH, and the conducted cascade analysis made it possible to establish a diagnosis of FH in the sister, nephew, daughter and granddaughter of the proband and to rule out this diagnosis in the grandson.