Heterozygous c.1730G > C (p.Trp577Ser) variation in a case with familial hypercholesterolemia

Introduction: FH is an autosomal dominant disease of lipid metabolism. Hypercholesterolemia, xanthomas, and death from early coronary artery (CAD) are common in this due to a mutation the LDLR, Apo-B100 or PCSK9 genes. Case report: A 4-year-old male patient with very rare heterozygous c.1730G > C (p.Trp577Ser) variation exon 12 low-density lipoprotein receptor (LDLR) gene that causes familial hypercholesterolemia (FH) was reported. As case, form may not show any symptoms first decade. This region specific. Therefore, region-specific diagnostic criteria should be developed. Conclusion: We aimed contribute literature on development by discussing patient's condition clinical results.