Observational (n=11)
No
Tunisian patients with hypertrophic cardiomyopathy may possess a unique genetic background characterized by a higher prevalence of rare gene mutations compared to classic HCM-associated genes.
Supports hypothesis of distinct North African HCM genetics; hypothesis-generating and should not yet change screening practice.
We recently performed next generation sequencing (NGS) genetic screening in 11 consecutive and unrelated Tunisian HCM probands seen at Habib Thameur Hospital in Tunis in the first 6 months of 2014, as part of a cooperative study between our Institutions. The clinical diagnosis of HCM was made according to standard criteria. Using the Illumina platform, a panel of 12 genes was analyzed including myosin binding protein C (MYBPC3), beta-myosin heavy chain (MYH7), regulatory and essential light chains (MYL2 and MYL3), troponin-T (TNNT2), troponin-I (TNNI3), troponin-C (TNNC1), alpha-tropomyosin (TPM1), alpha-actin (ACTC1), alpha-actinin-2 (ACTN2) as well as alfa-galactosidase (GLA), 5'-AMP-activated protein (PKRAG2), transthyretin (TTR) and lysosomal-associated membrane protein-2 (LAMP2) for exclusion of phenocopies. Our preliminary data, despite limitations inherent to the small sample size, suggest that HCM in Tunisia may have a peculiar genetic background which privileges rare genes overs the classic HCM-associated MHY7 and MYBPC3 genes.
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Jaafar et al. (2015) conducted an observational in Hypertrophic cardiomyopathy (n=11). Next generation sequencing (NGS) genetic screening was evaluated on Identification of pathogenic mutations in a 12-gene panel.
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