Article
Variable and Severe Phenotypic Expression of the "Lebanese Allele" in Two Sisters with Familial Hypercholesterolemia.
Vascular health and risk management - 1 Jan 2021
Chahine Johnny, Kreykes Sarah, Van't Hof Jeremy R, Duprez Daniel, Nijjar Prabhjot
Abstract excerpt
The "Lebanese allele" {LDLR c.2043 C>A (p.cys681X)} is a nonsense mutation in the low-density lipoprotein receptor (LDLR) gene that results in a truncated non-functioning LDLR protein. We report two sisters of Lebanese descent who presented with familial hypercholesterolemia (FH) and were both heterozygous for the Lebanese allele, but had very distinct LDL-C levels and clinical phenotypes. Whereas one of the...
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