the first report of gac>aac mutation in familialhypercholesterolemia in khuzestan

Introduction: familial hypercholesterolemia (fh) is a disorder with the autosomal dominant inheritance pattern caused mainly by mutations in ldlr, apob-100, or pcsk9 genes. in most cases, the genetic cause of fh is a mutation in the ldlr gene, which leads to a rise in blood ldl cholesterol, premature coronary heart diseases (chd), and premature atherosclerosis. case presentation: in this study, we examined a probable mutation in the exon of the ldlr gene in a case suffering from familial hypercholesterolemia in khuzestan province. in this survey, a family suffering from fh was examined through the examination of the exons of the ldlr gene through the pcr-sequencing method. the observed mutation in the ldlr gen was a missense mutation gac>aac at position 492 in exon 10 of ldlr. gac>aac causes the conversion of the aspartic acid to asparagine. conclusions: ldlr gene mutations are considered as an important factor causing fh. therefore, our results encourage future research to investigate more mutations as susceptible variants that might be involved in fh.