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