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SIDS associated RYR2 p.Arg2267His variant may lack pathogenicity.

Utkarsh Kohli1, Hemal M Nayak2

  • 1Division of Pediatric Cardiology, Department of Pediatrics, Comer Children's Hospital and Pritzker School of Medicine of the University of Chicago, Chicago, IL, United States of America.

Journal of Electrocardiology
|March 30, 2020
PubMed
Summary

Sudden infant death syndrome (SIDS) may involve RYR2 variants, but in vitro findings don't always predict human SIDS risk. Caution is advised when interpreting rare RYR2 variants based solely on lab studies.

Keywords:
Catecholaminergic polymorphic ventricular tachycardia (CPVT)Non-pathogenicSudden infant death syndrome

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Area of Science:

  • Cardiovascular Genetics
  • Sudden Infant Death Syndrome Research
  • Molecular Autopsy

Background:

  • Sudden infant death syndrome (SIDS) is unexplained infant death, with cardiac channel mutations implicated in 5-10% of cases.
  • Rare RYR2 variants have been found in SIDS victims, with pathogenicity often inferred from in vitro studies.
  • Long QT syndrome (LQTS) is a known risk factor associated with cardiac channel mutations.

Purpose of the Study:

  • To investigate the clinical significance of a rare RYR2 variant (c.6800G>A, p.Arg2267His) previously identified in a SIDS victim.
  • To assess the in vivo phenotype in a family carrying this RYR2 variant.
  • To evaluate the correlation between in vitro functional data and human phenotype for RYR2 variants.

Main Methods:

  • Genetic analysis of a family with 5 members carrying a heterozygous RYR2 variant.
  • Clinical evaluation including exercise stress tests, echocardiograms, and Holter monitoring.
  • Review of in vitro studies indicating a gain-of-function CPVT phenotype for the variant.

Main Results:

  • All 5 family members (ages 7-41) carrying the RYR2 variant showed negative results on all clinical evaluations.
  • Despite in vitro data suggesting a CPVT phenotype, no clinical signs of the condition were observed in the family.
  • The RYR2 variant (c.6800G>A, p.Arg2267His) did not manifest a clear phenotype in this family.

Conclusions:

  • In vitro functional data for RYR2 variants may not accurately predict in vivo human phenotype.
  • Caution is warranted when inferring pathogenicity of RYR2 variants solely based on in vitro studies.
  • Further research is needed to understand the clinical relevance of RYR2 variants in SIDS and related cardiac conditions.