Genetic Diagnosis of Familial Hypercholesterolaemia: The Importance of an Integrated Analysis of Clinical, Molecular and Functional Data

Familial Hypercholesterolaemia (FH) is one of the most common monogenic disorders, being caused mostly by mutations in LDL receptor (LDLR) gene. The high levels of LDL cholesterol presented since birth confers these patients an increased cardiovascular risk. Laboratory techniques have improved great...

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Bibliographic Details
Main Author: Alves, A.C. (author)
Other Authors: Benito-Vicente, A. (author), Etxebarria, A. (author), Medeiros, A.M. (author), Martin, C. (author), Bourbon, Mafalda (author)
Format: conferenceObject
Language:eng
Published: 2016
Subjects:
Doenças Cardio e Cérebro-vasculares
Familial Hypercholesterolaemia
Online Access:http://hdl.handle.net/10400.18/3371
Country:Portugal
Oai:oai:repositorio.insa.pt:10400.18/3371
Description
Summary:Familial Hypercholesterolaemia (FH) is one of the most common monogenic disorders, being caused mostly by mutations in LDL receptor (LDLR) gene. The high levels of LDL cholesterol presented since birth confers these patients an increased cardiovascular risk. Laboratory techniques have improved greatly recently and new variants are found every day that need to be validated as mutations causing disease for the correct diagnosis of FH. The aim of this study was to characterize both at the phenotypic and genotypic level, families with a clinical diagnosis of FH and discuss the importance of the integration of clinical, molecular and functional data for the correct diagnosis of these patients.

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