Key result
The ApoB-100 R3527Q mutation, which causes familial defective apolipoprotein B and hypercholesterolemia, was detected for the first time in a family in Northwest Greece.
Case Report
This report expands the known geographic distribution of the ApoB-100 R3527Q mutation causing familial defective apolipoprotein B to include Greece.
Extends known geographic distribution of ApoB-100 R3527Q; leaves open regional prevalence and screening implications.
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.
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Chatzistefanidis D Markoula S (2013) conducted a case report in Familial defective apolipoprotein B (FDB) / Hypercholesterolemia. ApoB-100 R3527Q mutation was evaluated on Detection of R3527Q mutation. The ApoB-100 R3527Q mutation, which causes familial defective apolipoprotein B and hypercholesterolemia, was detected for the first time in a family in Northwest Greece.
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