Establishing the Mutational Spectrum of Hungarian Patients with Familial Hypercholesterolemia.

ABSTRACT: Familial hypercholesterolemia (FH) is one of the most common autosomal, dominantly inherited diseases affecting cholesterol metabolism, which, in the absence of treatment, leads to the development of cardiovascular complications. The disease is still underdiagnosed, even though an early diagnosis would be of great importance for the patient to receive proper treatment and to prevent further complications. No studies are available describing the genetic background of Hungarian FH patients. In this work, we present the clinical and molecular data of 44 unrelated individuals with suspected FH. Sequencing of five FH-causing genes (LDLR, APOB, PCSK9, LDLRAP1 and STAP1) has been performed by next-generation sequencing (NGS). In cases where a copy number variati

SUBMITTER: Madar L 

PROVIDER: S-EPMC8775528 | biostudies-literature | 2022 Jan

REPOSITORIES: biostudies-literature