Frequent LDLR, APOB, and PCSK9 gene mutations have been described in patients suffering from hypercholesterolemia; however, genetic data on the Iranian population are still limited (Jensen et al., 1996; Fardesfahani et al., 2005; Fardesfahani and Khatami, 2010; Farrokhi et al., 2011; Fairoozy et al., 2017; Ekrami et al., 2018; Nikkhooy et al., 2018; Tajamolian et al., 2018). The gene discussed is LDLR; the disease is familial hypercholesterolemia.