Functional characterization of 2 news variants in the APOB gene

Alves, A.C.; Medeiros, A.M.; Etxebarria, A.; Benito-Vicente, A.; Martin, C.; Bourbon, Mafalda

http://hdl.handle.net/10400.18/5165

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Abstract(s)

Familial hypercholesterolaemia (FH) is an autosomal dominant disorder of cholesterol metabolism. Loss of function mutations in LDLR and APOB and also gain of function mutations in PCSK9 have been associated with FH, but mutations in LDLR are the most common cause of FH. Until 2012 only mutations in two small fragments of exon 26 and 29 were described as causing FH. However with Next Generation Sequencing techniques others alterations in fragments not studied in routine diagnosis are being found and need to be functional characterized. In the past years 5 new functional mutations have been described in APOB fragments not routinely studied and our group characterized 2/5 as causing FH