2024
DOI: 10.1002/mgg3.70030
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Pathogenicity of the LDLR c.97C>T (p.Gln33Ter) Mutation in Familial Hypercholesterolemia

Kaihan Wang,
Tingting Hu,
Mengmeng Tai
et al.

Abstract: BackgroundFamilial hypercholesterolemia (FH) is a hereditary disease caused mainly by mutations in the gene encoding the low‐density lipoprotein receptor (LDLR). This study aimed to confirm the pathogenicity of the LDLR c.97C>T (p.Gln33Ter) mutation through in vitro functional validation and determine whether this nonsense mutation induces nonsense‐mediated mRNA decay (NMD).MethodsThe proband and his family were included in accordance with Chinese Expert Consensus on FH screening. The disease‐causing mutati… Show more

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