An Iranian-Armenian LDLR frameshift mutation causing familial hypercholesterolemia.
We used polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis to detect a mutation in the low density lipoprotein receptor (LDLR) gene in a family of Iranian-Armenian origin. The mutation, designated FH Yrmeih, deletes two nucleotides from exon 10 of the LDLR gene, which causes a translational frameshift, whereby a truncated LDLR protein of the first 471 residues of the LDLR with an additional 41 abnormal residues and a premature stop codon would be created. The deletion was detected in a father and son with clinical features of heterozygous FH. To our knowledge this is the first pathogenetic LDLR mutation identified in FH patients of Iranian-Armenian ancestry.
Jensen
H K
HK
Center for Medical Molecular Biology, Aarhus University Hospital, Skejby Sygehus, Denmark.
Jensen
L G
LG
Hansen
P S
PS
Faergeman
O
O
Gregersen
N
N
D000293:Adolescent; D001136:Armenia / Q000208:ethnology; D001483:Base Sequence; D002784:Cholesterol / Q000032:analysis; D008076:Cholesterol, HDL / Q000032:analysis; D008078:Cholesterol, LDL / Q000032:analysis; D003718:Denmark; D016368:Frameshift Mutation; D006801:Humans; D006938:Hyperlipoproteinemia Type II / Q000208:ethnology / Q000235:genetics*; D007492:Iran / Q000208:ethnology; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011973:Receptors, LDL / Q000235:genetics*; D014280:Triglycerides / Q000032:analysis
D008076:Cholesterol, HDL; D008078:Cholesterol, LDL; D011973:Receptors, LDL; D014280:Triglycerides; D002784:Cholesterol