A case of autosomal recessive hypercholesterolemia with a novel mutation in the <i>LDLRAP1</i> gene

Familial hypercholesterolemia (FH, OMIM number #143890), a life-threatening monogenic disorder characterized by high levels of low-density lipoprotein cholesterol (LDL-C), is classified into dominant and recessive types (1). The form FH may result from mutations in the LDLR, APOB, PCSK9 genes (2). However, receptor (LDLR) adaptor protein-1 (LDLRAP1) gene cause an autosomal inheritance pattern called (ARH, #603813). LDLRAP1 protein, encoded gene, required for receptor-mediated endocytosis LDL-C ARH rare with estimated prevalence less than 1 population one million. This disease considered phenocopy most severe FH, homozygous familial (HoFH; 143890). Hence, patients are clinically indiscernible HoFH, which caused two defective LDLR approximate individual per million (8). Considering that develop aggressive premature atherosclerotic cardiovascular (ASCVD) due to during early adulthood, lipid-lowering therapy must be initiated childhood (3). Early identification through genetic analysis proband their relatives can provide prognosis subsequently appropriate, timely treatment. In this report, we describe novel variant, c.649G>T, p.Glu217Ter, state exon 7 causing ARH.