In the present study, we employed physical examinations, lipid profiling, DNA sequencing and the DLCN criteria to investigate a proband and his 14 family members and relatives, and found: 1) 9 out of 15 study subjects carried the C308Y mutation in LDL-R; 2) apart from the index patient and his father, all other members with the C308Y variant did not have suggestive CHD manifestations; and 3) under the DLCN criteria, all 9 mutants had definite FH. This evidence concerns the gene LDLR and familial hyperaldosteronism.