Application of Long-Read Nanopore Sequencing to the Search for Mutations in Hypertrophic Cardiomyopathy

Figures

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  Figure 1. The structure of five sarcomeric protein genes. Primers for long-range PCR employed in this study are illustrated by lines, each annotated with PCR product size (bp). (A) The MYBPC3 gene was amplified in five fragments covering the promoter region and the coding sequences of exons 1–5 and 13–35. (B) The MYH7 gene, including its promoter, was amplified in three fragments. (C) TPM1, including its promoter, was amplified in six fragments. (D) TNNT2, including its promoter, was amplified in four fragments. (E) The TNNI3 gene, including its promoter, was amplified in two fragments.

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  Figure 2. The coverage plot of the long PCR products (gene fragments) for the TPM1 gene of patient 1.

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  Figure 3. The case of HCM (patient 1) with p.Gln1233Ter (rs397516037) in the MYBPC3 gene. (A) The pedigree of the proband (MI: myocardial infarction); (B) molecular genetic testing of the patient by ONT and Illumina methods; (C) Sanger sequencing; (D) echocardiogram: left ventricle, parasternal long axis position.

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  Figure 4. Clinical heterogeneity of HCM in carriers of p.Gln1233Ter of the MYBPC3 gene [15,27,28,29,30,31,32,33,34,35,36,37,38,39]. Legend. ECHO: echocardiographic signs of myocardium hypertrophy, HCM: hypertrophic cardiomyopathy, LVNC: left ventricular non-compaction, HF: heart failure, LVOTO: left ventricular outflow tract obstruction, ?: no data on left ventricular thickness. Red heart: female; blue heart: male. The numbers outside each heart indicate maximum thickness of the left ventricle (mm).