Sarcomeric gene mutations in sudden infant death syndrome (SIDS)

Forensic Science International

Volumn 219, Issue 1-3, 2012, Pages 278-281

  Brion, Maria ^a,b   Allegue, Catarina ^a,b   Santori, Montserrat ^a,b   Gil, Rocio ^a,b   Blanco Verea, Alejandro ^a,b   Haas, Cordula ^c   Bartsch, Christine ^c   Poster, Simone ^d   Madea, Burkhard ^d   Campuzano, Oscar ^e   Brugada, Ramon ^e   Carracedo, Angel ^b  

^a HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

^b CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^c Institute of Legal Medicine   (Switzerland)

^d UNIVERSITY OF BONN   (Germany)

^e UNIVERSITY OF GIRONA   (Spain)

Author keywords

Gene mutation; Hypertrophic cardiomyopathy; SIDS; Sudden death

Indexed keywords

ALPHA ACTIN; ALPHA GALACTOSIDASE; ALPHA TROPOMYOSIN; CELL PROTEIN; DNA; HYDROXYMETHYLGLUTARYL COENZYME A REDUCTASE KINASE; MYOSIN BINDING PROTEIN C; MYOSIN HEAVY CHAIN ALPHA; MYOSIN HEAVY CHAIN BETA; MYOSIN LIGHT CHAIN; MYOSIN VI; SARCOMERIC PROTEIN; TROPONIN C; TROPONIN I; TROPONIN T; UNCLASSIFIED DRUG;

ACTC GENE; ALLELE; ANALYTICAL EQUIPMENT; ARTICLE; AUTOMATION; CONTROLLED STUDY; GENE; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENETIC VARIABILITY; GLA GENE; HUMAN; HUMAN TISSUE; HYPERTROPHIC CARDIOMYOPATHY; INFANT; MAJOR CLINICAL STUDY; MATRIX ASSISTED LASER DESORPTION IONIZATION TIME OF FLIGHT MASS SPECTROMETRY; MYBPC3 GENE; MYH6 GENE; MYH7 GENE; MYL2 GENE; MYL3 GENE; MYLK2 GENE; MYO6 GENE; PHENOTYPE; PRIORITY JOURNAL; PRKAG2 GENE; SARCOMERIC GENE; SEQUENCE ANALYSIS; SUDDEN INFANT DEATH SYNDROME; TCAP GENE; TNNC1 GENE; TNNT2 GENE; TNNT3 GENE; TPM1 GENE; TTN GENE;

EID: 84861577198     PISSN: 03790738     EISSN: 18726283     Source Type: Journal    
DOI: 10.1016/j.forsciint.2012.01.018     Document Type: Article

References (31)

1. Krous H.F., Beckwith J.B., Byard R.W., Rognum T.O., Bajanowski T., Corey T., et al. Sudden infant death syndrome and unclassified sudden infant deaths: a definitional and diagnostic approach. Pediatrics 2004, 114(1):234-238.
2. Moon R.Y., Horne R.S., Hauck F.R. Sudden infant death syndrome. Lancet 2007, 370:1578-1587.
3. Weese-Mayer D.E., Ackerman M.J., Marazita M.L., Berry-Kravis E.M. Sudden infant death syndrome: review of implicated genetic factors. Am. J. Med. Genet. A 2007, 143A(8):771-788.
4. Hauck F.R., Tanabe K.O. International trends in sudden infant death syndrome: stabilization of rates requires further action. Pediatrics 2008, 122(3):660-666.
5. Ackerman M.J., Siu B.L., Sturner W.Q., Tester D.J., Valdivia C.R., Makielski J.C., et al. Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 2001, 286(18):2264-2269.
6. Tester D.J., Ackerman M.J. Sudden infant death syndrome: how significant are the cardiac channelopathies?. Cardiovasc. Res. 2005, 67(3):388-396.
7. Arnestad M., Crotti L., Rognum T.O., Insolia R., Pedrazzini M., Ferrandi C., et al. Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 2007, 115(3):361-367.
8. Cronk L.B., Ye B., Kaku T., Tester D.J., Vatta M., Makielski J.C., et al. Novel mechanism for sudden infant death syndrome: persistent late sodium current secondary to mutations in caveolin-3. Heart Rhythm 2007, 4(2):161-166.
9. Weese-Mayer D.E., Zhou L., Berry-Kravis E.M., Maher B.S., Silvestri J.M., Marazita M.L. Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am. J. Med. Genet. A 2003, 122A(3):238-245.
10. Weese-Mayer D.E., Berry-Kravis E.M., Zhou L., Maher B.S., Curran M.E., Silvestri J.M., et al. Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr. Res. 2004, 56(3):391-395.
11. Rand C.M., Weese-Mayer D.E., Maher B.S., Zhou L., Marazita M.L., Berry-Kravis E.M. Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome. Am. J. Med. Genet. A 2006, 140(13):1447-1452.
12. Opdal S.H., Opstad A., Vege A., Rognum T.O. IL-10 gene polymorphisms are associated with infectious cause of sudden infant death. Hum. Immunol. 2003, 64(12):1183-1189.
13. Opdal S.H., Rognum T.O. New insight into sudden infant-death syndrome. Lancet 2004, 364(9437):825-826.
14. Forsyth L., Hume R., Howatson A., Busuttil A., Burchell A. Identification of novel polymorphisms in the glucokinase and glucose-6-phosphatase genes in infants who died suddenly and unexpectedly. J. Mol. Med. 2005, 83(8):610-618.
15. Opdal S.H., Vege A., Arnestad M., Musse M.A., Rognum T.O. Mitochondrial tRNA genes and flanking regions in sudden infant death syndrome. Acta Paediatr. 2007, 96(2):211-214.
16. Ostman-Smith I., Wettrell G., Keeton B., Holmgren D., Ergander U., Gould S., et al. Age- and gender-specific mortality rates in childhood hypertrophic cardiomyopathy. Eur. Heart J. 2008, 29(9):1160-1167.
17. Brinkmann B. Harmonization of medico-legal autopsy rules. Committee of Ministers. Council of Europe. Int. J. Legal Med. 1999, 113(1):1-14.
18. Krous H.F.I. Instruction and reference manual for the International Standardise. Autopsy protocol for sudden unexpected infant death. J. SIDS Infant Mortal. 1996, 1:203-246.
19. Brion M., Allegue C., Monserrat L., Hermida M., Castro-Beiras A., Carracedo A. Large scale analysis of HCM mutations in sudden cardiac death. Forensic Sci. Int. Genet. Suppl. Ser. 2008, 1:549-550.
20. Rodriguez-Garcia M.I., Monserrat L., Ortizet M., Fernández X., Cazón L., Núñez L., et al. Screening mutations in myosin binding protein C3 gene in a cohort of patients with hypertrophic cardiomyopathy. BMC Med. Genet. 2010, 11:67.
21. Roberts J.D., Veinot J.P., Rutberg J., Gollob M.H. Inherited cardiomyopathies mimicking ARVC. Cardiovasc. Pathol. 2009, 19(5):316-320.
22. Morner S., Richard P., Kazzam E., Hellman U., Hainque B., Schwartz K., et al. Identification of the genotypes causing hypertrophic cardiomyopathy in northern Sweden. J. Mol. Cell Cardiol. 2003, 35(7):841-849.
23. Alders M., Jongbloed R., Deelen W., van den Wijngaard A., Doevendans P., Ten Cate F., et al. The 2373insG mutation in the MYBPC3 gene is a founder mutation, which accounts for nearly one-fourth of the HCM cases in the Netherlands. Eur. Heart J. 2003, 24(20):1848-1853.
24. Van Driest S.L., Vasile V.C., Ommen S.R., Will M.L., Tajik A.J., Gersh B.j., et al. Myosin binding protein C mutations and compound heterozygosity in hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 2004, 44(9):1903-1910.
25. Olivotto I., Girolami F., Ackerman M.J., Nistri S., Bos J.M., Zachara E., et al. Myofilament protein gene mutation screening and outcome of patients with hypertrophic cardiomyopathy. Mayo Clin. Proc. 2008, 83(6):630-638.
26. Hershberger R.E., Norton N., Morales A., Li D., Siegfried J.D., Gonzalez-Quintana J. Coding sequence rare variants identified in MYBPC3, MYH6, TPM1, TNNC1 and TNNI3 from 312 patients with familial or idiopathic dilated cardiomyopathy. Circ. Cardiovasc. Genet. 2010, 3(2):155-161.
27. Bos J.M., Poley R.N., Ny M., Tester D.J., Xu X., Vatta M., et al. Genotype-phenotype relationships involving hypertrophic cardiomyopathy-associated mutations in titin, muscle LIM protein, and telethonin. Mol. Genet. Metab. 2006, 88(1):78-85.
28. Richard P., Charron P., Carrier L., Ledeuil C., Cheav T., Pichereau C., et al. Hypertrophic cardiomyopathy: distribution of disease genes, spectrum of mutations, and implications for a molecular diagnosis strategy. Circulation 2003, 107(17):2227-2232.
29. Carniel E., Taylor M.R., Sinagra G., Di Lenarda A., Ku L., Fain P.R., et al. Alpha-myosin heavy chain: a sarcomeric gene associated with dilated and hypertrophic phenotypes of cardiomyopathy. Circulation 2005, 112(1):54-59.
30. Mogensen J., Murphy R.T., Kubo T., Bahl A., Moon J.C., Klausen I.C., et al. Frequency and clinical expression of cardiac troponin I mutations in 748 consecutive families with hypertrophic cardiomyopathy. J. Am. Coll. Cardiol. 2004, 44(12):2315-2325.
31. Van Driest S.L., Ellsworth E.G., Ommen S.R., Tajik A.J., Gersh B.J., Ackerman M.J. Prevalence and spectrum of thin filament mutations in an outpatient referral population with hypertrophic cardiomyopathy. Circulation 2003, 108(4):445-451.