In silico classification of LDLR variants leads to misdiagnosis of FH patients – validation of a novel criteria

Alves, Ana Catarina; Medeiros, Ana Margarida; Bourbon, Mafalda

http://hdl.handle.net/10400.18/2439

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Authors

Alves, Ana Catarina

Medeiros, Ana Margarida

Bourbon, Mafalda

Abstract(s)

Introdution: Familial Hypercholesterolaemia (FH) is a genetic disorder most commonly caused by mutations in LDLR gene. More than 1300 different mutations on LDLR gene have been described as causing FH but, as has been previously shown, the simple finding of a variation in the coding sequence of the LDLR does not determine the actual cause of FH. Functional assessment is necessary to prove pathogenicity. The aim of this study was to compare results of in silico and in vitro functional analysis of 40 alterations in LDLR and with that validate an in silico model.