Gazi University Faculty of Medicine, Department of Pediatric Metabolism and Nutrition, Ankara, Turkey
Familial hypercholesterolemia (FH) is characterized by severely elevated LDL cholesterol (LDL-C) levels that lead to an increased risk for cardiovascular disease. An estimated 70%-95% of FH results from a heterozygous pathogenic variant in one of three genes (APOB, LDLR, PCSK9). Many people have mutations in the LDLR (low-density lipoprotein receptor) gene that encodes the LDL receptor protein, which normally removes LDL from the circulation. The aim of our study was to examine the genetic background of Turkish patients suspected of FH.
In this study, we characterize the spectrum of mutations causing FH in 40 Turkish probands suspected to have FH. Next-generation sequencing was performed in all subjects for LDLR gene.
A total of 25 mutations in the LDLR gene were detected in 40 subjects. For the patients who did not have a mutation in LDLR gene, sequencing analysis for APOB and PCSK9 has been performed.
FH diagnosis was achieved with a high success rate by using a combination of clinical criteria and targeted next-generation sequencing.