Familial Hypercholesterolemia in Iran: A Novel Frameshift Mutation in Low Density Lipoprotein Receptor (LDLR) Gene

Background and objective: familial hypercholesterolemia (fh) is an autosomal trait, which iscaused by mutations in low density lipoprotein receptor (ldlr) gene. fh penetrance is about100% and worldwide prevalence for heterozygous subjects is almost 1 in 500 and for homozygous1 in 1,000,000. the patients are at risk of premature coronary heart disease (chd) due to defectiveldlr and hence cholesterol metabolism disorder. the aim of this study was identifying genotypeof possible mutation in an iranian fh patient.materials and methods: promoter and all 18 exons including exon-intron boundaries of ldlrgene were scanned. polymerase chain reaction - single strand conformation polymorphism (pcrsscp)was used as mutation scanning method. dna sequencing was used to identify any nucleotidechange(s).results: a new frameshift mutation (660-661inscc) was found in proband.conclusion: this mutation causes a truncated, non-functional protein, which results inhypercholesterolemia. the mutation can be screened in proband's relatives to find other fhpatients.