Journal des syndromes génétiques et de la thérapie génique
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First Detection of Hypercholesterolemia Causing ApoB-100 R3527Q Mutation in a Family in Greece

Chatzistefanidis D, Markoula S, Vartholomatos G, Milionis HJ, Miltiadous G, Georgiou I, Elisaf MS and Kyritsis AP

Familial defective apolipoprotein B (FDB) is an autosomal dominant genetic disorder causing hypercholesterolemia in affected patients. It is occurring due to mutation of apoB gene leading to a decreased low density lipoprotein (LDL) particles clearance. The R3527Q mutation is one of the disease’s causative mutations. Data support mutation’s origin 6000-7000 years ago in Central Europe and its prevalence is decreasing in relation to the distance from where initially occurred. Until now, the presence of R3527Q mutation had not been confirmed in Greece. This is the first report of FDB due to R3527Q mutation in a family in Northwest Greece.