However, only 10% of the FH population worldwide has been diagnosed and adequately treated, due to the existence of numerous unidentified variants, uncertainties in the pathogenicity scoring of many variants, and a substantial number of individuals lacking access to genetic testing.<h4>Objective</h4>The aim of this study was to identify a novel variant in the LDLR gene that causes FH in a Chinese family, thereby expanding the spectrum of FH-causing variants.<h4>Methods</h4>Patients were recruited from Beijing Anzhen Hospital, Capital Medical University. This evidence concerns the gene LDLR and familial hyperaldosteronism.