Molecular diagnosis of genetic dyslipidaemias by next generation sequencing

Abstract

Background and Aims : Dyslipidaemia is a group of disorders of lipid metabolism characterized by abnormal lipid concentrations and are associated to serious conditions that can be prevented by early identification of patients. This project aims to characterize 96 Portuguese patients with clinical diagnoses of 3 main familial dyslipidemias.Methods: Molecular analysis (19 genes of lipid metabolism) was performed by Next Generation Sequencing. NGS Library was run on an Illumina NextSeq.Conclusions: This project contributed to a personalized diagnosis and treatment of Portuguese individuals improving patients’ prognosis. Since several variants of uncertain significance were found and might constitute a genetic cause of dyslipidemia, functional studies will be essential to investigate their impact. Background and Aims : Dyslipidaemia is a group of disorders of lipid metabolism characterized by abnormal lipid concentrations and are associated to serious conditions that can be prevented by early identification of patients. This project aims to characterize 96 Portuguese patients with clinical diagnoses of 3 main familial dyslipidemias. Methods: Molecular analysis (19 genes of lipid metabolism) was performed by Next Generation Sequencing. NGS Library was run on an Illumina NextSeq. Conclusions: This project contributed to a personalized diagnosis and treatment of Portuguese individuals improving patients’ prognosis. Since several variants of uncertain significance were found and might constitute a genetic cause of dyslipidemia, functional studies will be essential to investigate their impact.