Development of a Novel Targeted Panel Sequencing Assay to Identify Patients with Familial Hypercholesterolemia

Medeiros, A.M.; Silva, C.; Vieira, Luís; Bourbon, M.

http://hdl.handle.net/10400.18/3064

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Abstract(s)

Introduction: Familial hypercholesterolemia (FH) is a common autosomal dominant disorder of lipid metabolism. Genetic diagnosis of FH currently includes the study of LDLR, APOB (2 fragments of exons 26 and 29) and PCSK9, by PCR plus Sanger sequencing, although other techniques such as pyrosequencing have already been used in our lab to study LDLR and APOB genes. However, in our cohort, like in most populations, about 55% of patients with clinical diagnosis of FH do not present an identifiable mutation in any of these genes using these current techniques. Based on our previous studies we speculate that up to 10% of our clinical FH patients without an identifiable mutation may have an unknown functional mutation in APOB gene, outside the LDL-binding region; also mutations in other genes like LDLRAP1, APOE or LIPA are expected in other 2-5% patients. Here we present the preliminary results of the development of a novel targeted panel sequencing (TPS) approach with all the mentioned 6 genes, for patient identification improvement.