Extended next-generation sequencing panel for Familial Hypercholesterolemia

• Author(s): Medeiros, A.M. ; Alves, A.C. ; Bourbon, M.
• Date: 2021
• Persistent ID: http://hdl.handle.net/10400.18/7810
• Origin: Repositório Científico do Instituto Nacional de Saúde
• Subject(s): Familial Hypercholesterolemia; Cholesterol; Doenças Cardio e Cérebro-vasculares; Colesterol
• Document Type: Conference object
• Language: English
• Contributor(s): Repositório Científico do Instituto Nacional de Saúde

Description

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