Postmortem genetic testing of the ryanodine receptor 2 (RYR2) gene in a cohort of sudden unexplained death cases

International Journal of Legal Medicine

Volumn 127, Issue 1, 2013, Pages 139-144

  Larsen, M K ^a   Berge, K E ^b   Leren, T P ^b   Nissen, P H ^c   Hansen, J ^a   Kristensen, I B ^a   Banner, J ^a   Jensen, H K ^c  

^a AARHUS UNIVERSITY   (Denmark)

^b UNIVERSITY OF OSLO   (Norway)

^c AARHUS UNIVERSITY HOSPITAL   (Denmark)

Author keywords

Catecholaminergic polymorphic ventricular tachycardia; Forensic pathology; Forensic sciences; RYR2 gene; Sudden unexpected death

Indexed keywords

RYANODINE RECEPTOR;

ADOLESCENT; ADULT; ARTICLE; CHILD; COHORT ANALYSIS; DNA SEQUENCE; EXON; FEMALE; FORENSIC GENETICS; GENETIC SCREENING; GENETICS; HEART VENTRICLE TACHYCARDIA; HETEROZYGOTE; HUMAN; INFANT; MALE; MUTATION; NEWBORN; PRESCHOOL CHILD; SUDDEN DEATH;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COHORT STUDIES; DEATH, SUDDEN; EXONS; FEMALE; FORENSIC GENETICS; GENETIC TESTING; HETEROZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; RYANODINE RECEPTOR CALCIUM RELEASE CHANNEL; SEQUENCE ANALYSIS, DNA; TACHYCARDIA, VENTRICULAR; YOUNG ADULT;

MLCS; MLOWN;

EID: 84872401976     PISSN: 09379827     EISSN: 14371596     Source Type: Journal    
DOI: 10.1007/s00414-011-0658-2     Document Type: Article

References (28)

1. Tester DJ, Ackerman MJ (2006) The role of molecular autopsy in unexplained sudden cardiac death. Curr Opin Cardiol 21(3):166-172
2. Tester DJ, Spoon DB, Valdivia HH, Makielski JC, Ackerman MJ (2004) Targeted mutational analysis of the RyR2-encoded cardiac ryanodine receptor in sudden unexplained death: a molecular autopsy of 49 medical examiner/coroner's cases. Mayo Clin Proc 79(11):1380-1384
3. Leenhardt A, Lucet V, Denjoy I, Grau F, Ngoc DD, Coumel P (1995) Catecholaminergic polymorphic ventricular tachycardia in children. A 7-year follow-up of 21 patients. Circulation 91(5):1512-1519
4. Swan H, Piippo K, Viitasalo M, Heikkila P, Paavonen T, Kainulainen K et al (1999) Arrhythmic disorder mapped to chromosome 1q42-q43 causes malignant polymorphic ventricular tachycardia in structurally normal hearts. J Am Coll Cardiol 34(7):2035-2042
5. Priori SG, Napolitano C, Memmi M, Colombi B, Drago F, Gasparini M et al (2002) Clinical and molecular characterization of patients with catecholaminergic polymorphic ventricular tachycardia. Circulation 106(1):69-74
6. Tester DJ, Dura M, Carturan E, Reiken S, Wronska A, Marks AR et al (2007) A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Hear Rhythm 4(6):733-739
7. Creighton W, Virmani R, Kutys R, Burke A (2006) Identification of novel missense mutations of cardiac ryanodine receptor gene in exercise-induced sudden death at autopsy. J Mol Diagn 8(1):62-67
8. Tester DJ, Kopplin LJ, Will ML, Ackerman MJ (2005) Spectrum and prevalence of cardiac ryanodine receptor (RyR2) mutations in a cohort of unrelated patients referred explicitly for long QT syndrome genetic testing. Hear Rhythm 2(10):1099-1105
9. Allouis M, Probst V, Jaafar P, Schott JJ, Le MH (2005) Unusual clinical presentation in a family with catecholaminergic polymorphic ventricular tachycardia due to a G14876A ryanodine receptor gene mutation. Am J Cardiol 95(5):700-702
10. Liu N, Ruan Y, Priori SG (2008) Catecholaminergic polymorphic ventricular tachycardia. Prog Cardiovasc Dis 51(1):23-30
11. Priori SG, Napolitano C, Tiso N, Memmi M, Vignati G, Bloise R et al (2001) Mutations in the cardiac ryanodine receptor gene (hRyR2) underlie catecholaminergic polymorphic ventricular tachycardia. Circulation 103(2):196-200
12. Laitinen PJ, Brown KM, Piippo K, Swan H, Devaney JM, Brahmbhatt B et al (2001) Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia. Circulation 103(4):485-490
13. Lahat H, Pras E, Olender T, Avidan N, Ben-Asher E, Man O et al (2001) A missense mutation in a highly conserved region of CASQ2 is associated with autosomal recessive catecholamine-induced polymorphic ventricular tachycardia in Bedouin families from Israel. Am J Hum Genet 69(6):1378-1384
14. Zalk R, Lehnart SE, Marks AR (2007) Modulation of the ryanodine receptor and intracellular calcium. Annu Rev Biochem 76:367-385
15. Wehrens XH, Lehnart SE, Huang F, Vest JA, Reiken SR, Mohler PJ et al (2003) FKBP12.6 deficiency and defective calcium release channel (ryanodine receptor) function linked to exercise-induced sudden cardiac death. Cell 113(7):829-840
16. Berge KE, Haugaa KH, Fruh A, Anfinsen OG, Gjesdal K, Siem G et al (2008) Molecular genetic analysis of long QT syndrome in Norway indicating a high prevalence of heterozygous mutation carriers. Scand J Clin Lab Invest 68(5):362-368
17. Luderer R, Verheul A, Kortlandt W (2004) Rapid detection of the factor V Leiden mutation by real-time PCR with TaqMan minor groove binder probes. Clin Chem 50(4):787-788
18. Gregersen M, Rajs J, Laursen H et al (1995) Pathologic criteria for the Nordic study. In: Rognum TO, SIDS International Conference, Stavanger Norway, eds. Sudden Infant Death Syndrome: New Trends in the Nineties. Oslo: Scandinavian University Press, pp 50-58
19. Medeiros-Domingo A, Bhuiyan ZA, Tester DJ, Hofman N, Bikker H, van Tintelen JP et al (2009) The RYR2-encoded ryanodine receptor/calcium release channel in patients diagnosed previously with either catecholaminergic polymorphic ventricular tachycardia or genotype negative, exercise-induced long QT syndrome: a comprehensive open reading frame mutational analysis. J Am Coll Cardiol 54(22):2065-2074
20. Nishio H, Suzuki K (2009) Postmortem molecular analysis for fatal arrhythmogenic disease in sudden unexplained death. Leg Med (Tokyo) 11(Suppl 1):S119-S120
21. Meli AC, Refaat MM, Dura M, Reiken S, Wronska A, Wojciak J et al (2011) A novel ryanodine receptor mutation linked to sudden death increases sensitivity to cytosolic calcium. Circ Res 109(3):281-290
22. Jiang D, Jones PP, Davis DR, Gow R, Green MS, Birnie DH et al (2010) Characterization of a novel mutation in the cardiac ryanodine receptor that results in catecholaminergic polymorphic ventricular tachycardia. Channels (Austin) 4(4):302-310
23. Carturan E, Tester DJ, Brost BC, Basso C, Thiene G, Ackerman MJ (2008) Postmortem genetic testing for conventional autopsy-negative sudden unexplained death: an evaluation of different DNA extraction protocols and the feasibility of mutational analysis from archival paraffin-embedded heart tissue. Am J Clin Pathol 129(3):391-397
24. Michaud K, Mangin P, Elger BS (2011) Genetic analysis of sudden cardiac death victims: a survey of current forensic autopsy practices. Int J Legal Med 125(3):359-366
25. Yano M, Yamamoto T, Ikeda Y, Matsuzaki M (2006) Mechanisms of disease: ryanodine receptor defects in heart failure and fatal arrhythmia. Nat Clin Pract Cardiovasc Med 3(1):43-52
26. Brion M, Quintela I, Sobrino B, Torres M, Allegue C, Carracedo A (2010) New technologies in the genetic approach to sudden cardiac death in the young. Forensic Sci Int 203(1-3):15-24
27. Wong CH, Koo SH, She GQ, Chui P, Lee EJ (2009) Genetic variability of RyR2 and CASQ2 genes in an Asian population. Forensic Sci Int 192(1-3):53-55
28. Roux-Buisson N, Rendu J, Denjoy I, Guicheney P, Goldenberg A, David N et al (2011) Functional analysis reveals splicing mutations of the CASQ2 gene in patients with CPVT: implication for genetic counselling and clinical management. Hum Mutat. doi: 10.1002/humu.21537