[Research progression of LDLR mutations in Chinese Familial hypercholesterolemia]

Familial hypercholesterolemia (FH), one monogenic autosomal dominant disease, mainly results from genetic defects in the low-density lipoprotein receptor (LDLR) gene, which leads to the reduction or absence of cell surface LDLR, disorder of cholesterol metabolism, and cholesterol deposition in different tissues and organs. FH is a common metabolic disease clinically characterized by the presence of xanthomas and premature coronary heart disease. To date, about 1 741 variants have been identified in gene LDLR, among which 108 variants were identified in Chinese FH patients. To better understand the features of LDLR gene mutations and help to FH diagnosis and therapy, this review provides a comprehensive overview of LDLR gene mutations in Chinese FH patients.