LDLR and familial hypercholesterolemia: LDLR gene mutations are known to cause hypercholesterolemia thus leading to premature coronary artery disease.5 Familial hypercholesterolemia (FH) is the most frequent form of autoimmune dominant hypercholesterolemia (ADH) and is due to mutations within the gene encoding the LDL specific receptor.6 Mutations involving a small number of nucleotides, from point mutations to small deletions or insertions, account for 90% of all mutations in the LDLR gene.7