Peer-reviewed · Cell journal · 2024
A Mutational Hotspot in The LAMP2 Gene: Unravelling Intrafamilial Phenotypic Variation and Global Distribution of The c.877C>T Variant: A Descriptive Study
The study set out to characterise genotype and phenotype in a newly diagnosed Iranian family with Danon disease and to compare all reported carriers of the LAMP2 c.877C>T variant. It found nine affected males with variable left ventricular hypertrophy and consistent cardiac conduction abnormalities, highlighting marked intrafamilial phenotypic variability.
Kavousi et al.
The study set out to characterise genotype and phenotype in a newly diagnosed Iranian family with Danon disease and to compare all reported carriers of the LAMP2 c.877C>T variant. It found nine affected males with variable left ventricular hypertrophy and consistent cardiac conduction abnormalities, highlighting marked intrafamilial phenotypic variability.
Dante Labs’ involvement
Dante Labs carried out the whole genome sequencing for this study: high-quality DNA from the proband was assessed by WGS on our Illumina NovaSeq 6000 platform, achieving 30-fold coverage with at least 95% of bases sequenced at 8× or higher coverage.
The sequencing output was processed using the DRAGEN™ Bio-IT Platform to generate the raw data files, including FASTQ R1, FASTQ R2, BAM and VCF files of single nucleotide polymorphisms (SNPs), indels and CNVs.
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Why Should a Genome Be Protected? Ethical, Legal, and Security Challenges in the Protection of Genomic Data
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