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Resequencing the Whole MYH7 Gene (Including the Intronic, Promoter, and 3' UTR Sequences) in Hypertrophic Cardiomyopathy
Journal of Molecular Diagnostics, 08/20/2012
Coto E et al. – The authors found several rare promoter variants in the patients compared to controls, some of which were in binding sites for transcription factors and could thus affect gene expression. Only one rare 3' UTR variant found in the patients was absent among the controls. This nucleotide change would not affect the binding of known microRNAs. Therefore, MYH7 mutations outside the coding exon sequences would be rarely found among hypertrophic cardiomyopathy (HCM) patients.