Identification of cryptic splice site, exon skipping, and novel point mutations in type I CD36 deficiency

CD36 is an 88 kDa glycoprotein IV expressed in platelets, monocytes, erythroblasts, capillary endothelial cells, and mammary epithelial cells. 1 CD6 was reported to be a receptor for collagen, thrombospondin, P falciparum infected red blood cells, 2 apoptotic neutrophils, 3 oxidised low density lipoproteins, 4 and as a transporter for long chain fatty acids.5 CD36 serves many functions in coagulation, host defence, lipid metabolism and scavenging.CD36 deficiency was first identified in a patient who showed refractoriness to HLA matched platelet transfusion.6 CD36 deficiency can be divided into two subgroups; in type I neither platelets nor monocytes/ macrophages express CD36, and in type II monocytes/ macrophages express CD36 but platelets do not.7 CD36 deficiency is more often observed in Japanese, Thais, and Africans than in Americans of European descent. 89 The incidence of type II CD36 deficiency is approximately 4.0% in Japanese, whereas type I CD36 deficiency is 0.56%.8 However, approximately 17% of Japanese patients with coronary heart disease have CD36 deficiency 10 and 40% of Japanese patients with HCM with asymmetrical hypertrophy (ASH) have CD36 deficiency.11 It has been reported that CD36 deficiency might easily result in ischaemic heart disease 10 and hypertrophic cardiomyopathy (HCM).11 Recently, CD36 has been reported to play an important role in atherogenicity.It was reported that CD36 deficiency could promote defective insulin action and disordered fatty acid metabolism in spontaneous hypertension 12 13 and antidiabetic thiazolidinedione drug and peroxisome proliferator activated receptor-γ (PPAR-γ) regulated CD36 expression.14 15 To understand the role of CD36, it is important to clarify the condition of CD36 deficient subjects.Kashiwagi et al 16 and Yanai et al 17 reported three mutations responsible for CD36 deficiency, a substitution of T for C at nt 478 of CD36 cDNA, a dinucleotide deletion at nt 539, 17 18 and a single nucleotide insertion at nt 1159.17 19 The substitution of T for C at 478 leads directly to CD36 deficiency via defects in post-translational modification.16 The dinucleotide deletion at . . .