An Iranian‐Armenian LDLR frameshift mutation causing familial hypercholesterolemia

• DOI: 10.1111/j.1399-0004.1996.tb04334.x
• Publication Date: 2010-07-19T07:36:23Z
• Authors: H. K. Jensen; L. G. Jensen; P. S. Hansen; O. Faergeman; N. Gregersen
• Keywords: Male; 0303 health sciences; Adolescent; Base Sequence; Denmark; Cholesterol, HDL; Molecular Sequence Data; Cholesterol, LDL; Armenia; Iran; Middle Aged; Polymerase Chain Reaction; 3. Good health; Hyperlipoproteinemia Type II; 03 medical and health sciences; Cholesterol; Receptors, LDL; Humans; Frameshift Mutation; Polymorphism, Single-Stranded Conformational; Triglycerides

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.