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
https://doi.org/10.15829/1728-8800-2025-4353
EDN: IIKOTK
Abstract
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.
Supporting agencies: We are grateful to the management of the Institute of Experimental Medicine for conducting a molecular genetic study at the institute
About the Authors
V. A. Korneva
Petrozavodsk State University
Russian Federation
Russian Federation
Petrozavodsk
M. Yu. Mandelstam
Institute of Experimental Medicine
Russian Federation
Russian Federation
Saint Petersburg
A. V. Orlov
Institute of Biomedical Problems
Russian Federation
Russian Federation
Moscow
T. Yu. Kuznetsova
Petrozavodsk State University
Russian Federation
Russian Federation
Petrozavodsk
F. M. Zakharova
Institute of Experimental Medicine
Russian Federation
Russian Federation
Saint Petersburg
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Supplementary files
- The incidence of familial hypercholesterolemia (FH) in Russia reaches 1:173, but the overwhelming majority of cases are not diagnosed in a timely manner.
- The profile of pathogenic nucleotide sequence variants leading to FH is specific to each population.
- DNA diagnostics of FH and cascade analysis in the family of a proband with an identified pathogenic variant of the nucleotide sequence make it possible to identify the disease before the development of atherosclerosis and its complications.
Review
For citations:
Korneva V.A., Mandelstam M.Yu., Orlov A.V., Kuznetsova T.Yu., Zakharova F.M. 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. Cardiovascular Therapy and Prevention. 2025;24(7):4353. (In Russ.) https://doi.org/10.15829/1728-8800-2025-4353. EDN: IIKOTK
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