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January 9, 2026International Journal of GenomicsOpen Access

Two rare heterozygous missense variants in RYR2 and SCN5A genes were identified in Iranian families linked to early-onset familial sudden cardiac death.

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Key result

Two rare heterozygous missense variants in RYR2 and SCN5A genes were identified in Iranian families linked to early-onset familial sudden cardiac death.

Authors

MTMahsa TahmasebivandSMSepideh MehvariFGFatemeh Ghodratpour

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Overview

Genetic investigations uncover rare variants related to early-onset sudden cardiac death in families, highlighting their importance for counseling.

Key Points

  • To investigate the genetic causes of early-onset sudden cardiac death in two Iranian families.
  • Performed whole-exome sequencing on probands from each family.
  • Utilized the Illumina DRAGEN haplotype variant calling system for variant identification.
  • Conducted alignment studies to assess the conservation of mutated residues.
  • Identified rare heterozygous missense variants in RYR2 and SCN5A genes.
  • Confirmed the association of these mutations with channelopathy pathogenesis.
  • Provided insights for genetic counseling for families with a history of sudden death.

Cite This Study

Tahmasebivand et al. (2026) studied this question. Two rare heterozygous missense variants in RYR2 and SCN5A genes were identified in Iranian families linked to early-onset familial sudden cardiac death.

synapsesocial.com/papers/696128f244c2cd6c68456c53https://doi.org/10.1155/ijog/5965922
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