The present study comprised sarcomeric genotyping of the three most commonly involved sarcomeric genes: MYBPC3, MYH7, and TNNT2 in 192 unrelated Egyptian hypertrophic cardiomyopathy (HCM) index patients. Mutations were detected in 40 % of cases. Presence of positive family history was significantly (p = 0.002) associated with a higher genetic positive yield (49/78, 62.8 %). The majority of the detected mutations in the three sarcomeric genes were novel (40/62, 65 %) and mostly private (47/62, 77 %). Single nucleotide substitution was the most frequently detected mutation type (51/62, 82 %). Over three quarters of these substitutions (21/27, 78 %) involved CpG dinucleotide sites and resulted from C > T or G > A transition in the three analyzed genes, highlighting the significance of CpG high mutability within the sarcomeric genes examined. This study could aid in global comparative studies in different ethnic populations and constitutes an important step in the evolution of the integrated clinical, translational, and basic science HCM program.

The aim was evaluation of the role of glypican-3 (GPC3) in early diagnosis of hepatocellular carcinoma (HCC) among Egyptian patients associated with hepatitis C virus (HCV) where genotype 4a is prevalent, as well as differentiating HCC from benign chronic liver disease.Methods: 80 individuals were enrolled in the study: 14 healthy volunteers, 18 patients with HCV, 18 patients with liver cirrhosis (LC) and 30 patients with HCC. Serum GPC3 and AFP levels were measured using ELISA technique.Results: GPC3 at cut-off value of 3.8 ng/ml (100% specificity) have superior sensitivity than AFP at cut-off values of 151.0 ng/ml (100% specificity) in differentiating HCC from benign liver disease. The GPC3 sensitivity was 93.3% versus 83.3% for AFP while the combined use of both markers improved the sensitivity to 96.7%. For early detection of HCC with tumor size P5 cm, the GPC3 sensitivity was 93.8% versus 87.5% for AFP while the combined use of both markers improved the sensitivity to 100%. Also early detection of uninodular HCC, the GPC3 sensitivity was 92.3% versus 84.6% for AFP while the combined use of both markers improved the sensitivity to 100%.Conclusion: Serum GPC3 could be a potential serum marker due to its high sensitivity and specificity in early detection of HCC. The combined use of both serum GPC3 and AFP provides a promising battery of tumor markers for differentiation of HCC from benign chronic liver diseases and early detection of small and uninodular HCC.

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