Genotype and Phenotype Analysis Using a Hyperlipidemia-Associated Gene Panel in Turkish Dyslipidemia Patients

Abstract

Objective: Familial hypercholesterolemia (FH) is one of the most frequent diseases with monogenic inheritance. Numerous genes have been associated with familial hypercholesterolemia and are being investigated by gene panel testing in patients with familial hypercholesterolemia.
 Methods: In the present study, 28 patients with FH and some of their parents were evaluated via next-generation sequencing (NGS) using a targeted panel of 32 genes. 
 Results: Pathogenic or likely pathogenic variants were detected in six patients in the genes LDLR LIPC and CETP.
 Conclusion: The genotype-phenotype correlations of these variants were discussed by comparing the clinical findings with the literature.