Peer-reviewed · Clinical Case Reports · 2026
Unveiling New Insights: Reinterpreting DES Mutation, p.Arg383His, Through a Study of an Iranian Family With Isolated Hypertrophic Cardiomyopathy, Implication for Phenotype–Genotype Correlation Analysis
This study examined an Iranian family with severe hypertrophic cardiomyopathy and, using whole genome sequencing, identified a likely disease-causing p.Arg383His variant in the DES gene. A review of 119 reported DES missense variants found only limited correlation between variant location and clinical outcomes.
Kavousi et al.
This study examined an Iranian family with severe hypertrophic cardiomyopathy and, using whole genome sequencing, identified a likely disease-causing p.Arg383His variant in the DES gene. A review of 119 reported DES missense variants found only limited correlation between variant location and clinical outcomes.
Dante Labs’ involvement
Dante Labs carried out the whole-genome sequencing for this study. Sequencing was performed on the proband's DNA on our Illumina NovaSeq 6000 platform, achieving at least 30-fold coverage, with ≥95% of bases sequenced to at least 8× coverage.
As part of this workflow, the raw data files — FASTQ R1, FASTQ R2, the binary alignment map (BAM) and VCF files of single nucleotide polymorphisms, insertion–deletion variants and copy number variations — were generated using the DRAGEN Bio-IT Platform.
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