Spectrum of mutations and phenotypic expression in patients with autosomal dominant hypercholesterolemia identified in Italy

► LDLR, APOB and PCSK9 genes were analyzed in a large cohort of ADH patients. ► In the ADH heterozygotes the mutation detection rate in candidate genes was 82%. ► LDLR mutations were found in 97.4% of mutation positive ADH heterozygous patients. ► We found 237 LDLR mutations 45 of which had not been reported previously. ► LDLR mutation carriers had a more severe phenotype than APOB mutation carriers.