Mutations in LDLR, APOB, PCSK9 and APOE genes contribute to the genetic spectrum of familial hypercholesterolaemia in the north of England

Abstract

Aim: Mutations in three different genes (LDLR, APOB and PCSK9) affecting the LDL-receptor pathway are known to cause Familial hypercholesterolaemia (FH). However in approximately 20% of probands with a definite clinical diagnosis of FH no mutations are detected suggesting that there are FH causing mutations located in other genes. Although pathogenic mutations in the APOE gene have been reported in probands of European origin with the FH phenotype the frequency of such mutations in the UK is not known.