THU149 A Novel Frameshift Mutation (p.H485fs) Of The Ldl Receptor Gene

Disclosure: S. Chang: None. E. Yang: None. C. Kim: None. Familial hypercholesterolemia (FH) is characterized by significantly elevated low-density lipoprotein cholesterol (LDL-C) that leads to atherosclerotic plaque deposition in the coronary arteries and proximal aorta at an early age and increases the risk of premature cardiovascular events such as angina and myocardial infarction. It is an autosomal dominant inherited disease due to mutations in either the low-density lipoprotein receptor (LDL-R), the apolipoprotein B or the proprotein convertase subtilisin/kexin type 9 genes. In this study, we report a novel mutation in LDL receptor gene in a Korean family. A 10 year-old boy was referred to our hospital for hypercholesterolemia (530 mg/dl). On family history, His father and uncle have been treated for hypercholesterolemia and his grandfather died of coronary artery disease. Because of persisted hypercholesterolemia despite statin treatment for 18 months and his family history, we performed LDL-R gene study using polymerase chain reaction (PCR) sequencing. Direct sequencing of the 18 exons and exon-intron boundaries of LDL-R gene revealed deletions of C and A of exon 10 (c.1455_1456del). Study showed a novel heterozygous frameshift-deletion mutation (p.His485Glnfs*50) (p.H485fs). We performed PCR sequencing to detect same mutation on his family. Father and two siblings of the patient have same mutation (p.His485Glnfs*50) (p.H485fs) on study. Now we report a novel frameshift mutation (p.H485fs) located in exon 10 of LDL receptor gene that causes familial hypercholesterolemia in a Korean family. Presentation: Thursday, June 15, 2023