The First Report of GAC> AAC Mutation in Familial Hypercholesterolemia in Khuzestan

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. 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. 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