Familial hypercholesterolemia (FH) clinical characteristics include elevated LDL cholesterol levels, tendon xanthomas and increased risk of premature coronary artery diseases.1,2 At molecular level it is autosomal dominant diseases due to mutation of LDL receptor gene, more than 900 different LDL-R gene mutations have been reported world wide.3 Structural rearrangements are responsible for 5% mutation in heterozygous familial hypercholesterolemia.4 Here, LDLR is linked to autosomal dominant disease.