Genetic status of the Portuguese FH Study: Variant description and Next Generation Sequencing panel

Medeiros, A.M.; Alves, A.C.; Bourbon, M.

http://hdl.handle.net/10400.18/7717

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Authors

Medeiros, A.M.

Alves, A.C.

Bourbon, M.

Abstract(s)

Introduction: Familial Hypercholesterolemia (FH) is a common autosomal genetic disorder (1/250-1/500 worldwide); FH patients have high levels of cholesterol since birth with a family history of hypercholesterolemia and premature cardiovascular disease; Genetic diagnosis results from the study of 3 genes: LDLR, APOB, PCSK9; Recently, 5 genes have been associated with FH phenotype (LDLRAP1, APOE, LIPA, ABCG5/8) since pathogenic variants in those genes have been identified in clinical FH patients.