Spectrum of DNA Variants in Southwestern Ontario Patients with Familial Hypercholesterolemia.

ABSTRACT:

Background

Heterozygous familial hypercholesterolemia (HeFH) is the most prevalent inherited dyslipidemia, and it predisposes individuals to premature atherosclerotic cardiovascular disease. Genetic testing can provide a definitive diagnosis. The spectrum of causal DNA variants in Ontario patients with hypercholesterolemia is not fully defined.

Methods

In Southwestern Ontario patients with a clinical diagnosis of HeFH, we performed targeted next-generation DNA sequencing and bioinformatic analysis to determine the qualitative and quantitative spectrum of pathogenic and likely pathogenic (P/LP) variants.

Results

We observed 101 unique P/LP variants in 254 patients, of which 6 were novel LDLR pathogenic variants. We observed 23 variants of uncertain significance

SUBMITTER: Lordfard S 

PROVIDER: S-EPMC12800808 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature