Sarcomeric gene screening identified mutations in MYBPC3, MYH7, or TNNT2 in 40% of Egyptian hypertrophic cardiomyopathy patients, with the majority of detected mutations being novel.
Cross-Sectional (n=192)
Yes
Sarcomeric gene mutations are present in 40% of Egyptian HCM patients, with MYBPC3 being the most common, and a high proportion of novel and private mutations.
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.
Kassem et al. (Tue,) conducted a cross-sectional in Hypertrophic cardiomyopathy (n=192). Sarcomeric gene mutations (MYBPC3, MYH7, TNNT2) vs. No sarcomeric gene mutations was evaluated on Prevalence of mutations in MYBPC3, MYH7, and TNNT2 genes. Sarcomeric gene screening identified mutations in MYBPC3, MYH7, or TNNT2 in 40% of Egyptian hypertrophic cardiomyopathy patients, with the majority of detected mutations being novel.
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