Novel stop mutation causing familial hypercholesterolemia in a Costa Rican family.
Combined heteroduplex single-strand conformation polymorphism (HEX-SSCP) analysis of the promoter and coding region of the low density lipoprotein receptor (LDLR) gene revealed a novel C to T mutation at nucleotide position 2056 in a Costa Rican patient with heterozygous familial hypercholesterolemia (FH). This nonsense mutation, Q665X, results in a termination codon in the epidermal growth factor (EGF) precursor homology domain of the mature LDLR.
Thiart
R
R
Department of Human Genetics, Faculty of Medicine, University of Stellenbosch, Tygerberg, South Africa.
Loubser
O
O
de Villiers
J N
JN
Santos
M
M
Kotze
M J
MJ
D003364:Costa Rica; D006801:Humans; D006937:Hypercholesterolemia / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*
D011973:Receptors, LDL