Exome sequencing data reanalysis of 200 hypertrophic cardiomyopathy patients: the HYPERGEN French cohort 5 years after the initial analysis

Figures

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  Figure 1. Venn diagram visualization of genes across initial and 5-year analyses. The “previously analyzed genes” section includes genes from the 167-gene panel used in the original HYPERGEN study; the “overlapping genes” section contains genes identified in both the initial and current analyses; the “newly identified genes” section consists of genes associated with HCM between 2019 and 2024.

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  Figure 2. Variant distribution within HCM well-established genes. The number of patients harboring variants in each HCM core gene is dark purple. The number of variants within each gene is indicated in light purple.

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  Figure 3. Variant type distribution of MYBPC3 gene.

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  Figure 4. Proportion of MYBPC3 and MYH7 variants with P/LP ACMG classification. B, Benign; P, Pathogenic; LP, Likely Pathogenic; VUS, Variant of Uncertain Significance.

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  Figure 5. Schematic representation of the TRIM63 gene. Upside: Rare variants identified in HYPERGEN cohort: Green: B/LB; Yellow: VUS; Red: LP/P; Downside: Variants reported in Clinvar database (clinical significance at last reviewed): Grey: VUS and conflicting interpretations of pathogenicity; Black: LP/P; Protein domains: Red = RING-finger domain (Zn-finger of 40 to 60 residue); Blue = B-Box-type zinc finger; Green = Zn2+ binding site; Yellow = Inter-Src homology 2 (iSH2) helical domain of Class IA Phosphoinositide 3-kinase Regulatory subunits. Figure created with ProteinPaint (https://proteinpaint.stjude.org/).

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  Figure 6. Schematic representation of the FHOD3 gene. Upside: Rare variants identified in HYPERGEN cohort: Green = B/LB; Yellow = VUS; Red = LP/P; Downside: Variants reported in ClinVar database (clinical significance at last reviewed): Gray = VUS and conflicting interpretations of pathogenicity; Black = LP/P; protein domain: Green = Formin Homology 2 Domain. Figure was created with ProteinPaint (https://proteinpaint.stjude.org/).

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  Figure 7. Schematic representation of the SVIL gene. Upside: Rare variants identified in HYPERGEN cohort: Green = B/LB; Yellow = VUS; Downside: Variants reported in ClinVar database (clinical significance at last reviewed): Gray = VUS and conflicting interpretations of pathogenicity; Black = LP/P; Protein domains: Green, blue, yellow, gray, and brown = gelsolin-like domains. Figure was created with ProteinPaint (https://proteinpaint.stjude.org/).

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  Figure 8. Percentages of gene variants distribution among young patients.

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  Figure 9. Genes implicated in the HYPERGEN cohort. The number of variants is indicated in dark purple, and the number of patients is indicated in light purple.