Skip to main content
SpringerLink
Log in

Sudden infant death syndrome: study of genes pertinent to cardiorespiratory and autonomic regulation

  • Chapter
Genetic Basis for Respiratory Control Disorders

  • 451 Accesses

This is a preview of subscription content, log in via an institution to check access.

Access this chapter

Log in via an institution
Chapter
USD 29.95
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
eBook
USD 129.00
Price excludes VAT (USA)
  • Available as PDF
  • Read on any device
  • Instant download
  • Own it forever
Softcover Book
USD 169.99
Price excludes VAT (USA)
  • Compact, lightweight edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info
Hardcover Book
USD 169.99
Price excludes VAT (USA)
  • Durable hardcover edition
  • Dispatched in 3 to 5 business days
  • Free shipping worldwide - see info

Tax calculation will be finalised at checkout

Purchases are for personal use only

Institutional subscriptions

Preview

Unable to display preview. Download preview PDF.

Unable to display preview. Download preview PDF.

References

  1. Ackerman MJ (2004) Cardiac channelopathies: it’s in the genes. Nat Med 10: 463-464

    PubMed  CAS  Google Scholar 

  2. Ackerman MJ, Siu BL, Sturner WQ, Tester DJ, Valdivia CR, Makielski JC, Towbin JA (2001) Postmortem molecular analysis of SCN5A defects in sudden infant death syndrome. JAMA 286: 2264-2269

    PubMed  CAS  Google Scholar 

  3. Ackerman MJ, Splawski I, Makielski JC, Tester DJ, Will ML, Timothy KW, Keating MT, Jones G, Chadha M, Burrow CR, Stephens JC, Xu C, Judson R, Curran ME (2004) Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing. Heart Rhythm 1: 600-607

    PubMed  Google Scholar 

  4. Ackerman MJ, Tester DJ, Jones GS, Will ML, Burrow CR, Curran ME (2003) Ethnic differences in cardiac potassium channel variants: implications for genetic susceptibility to sudden cardiac death and genetic testing for congenital long QT syndrome. Mayo Clin Proc 78: 1479-1487

    PubMed  CAS  Google Scholar 

  5. Ackerman MJ, Tester DJ, Porter CJ (1999) Swimming, a gene-specific arrhythmogenic trigger for inherited long QT syndrome. Mayo Clin Proc74: 1088-1094

    PubMed  CAS  Google Scholar 

  6. Amiel J, Laudier B, Attie-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyon-net S (2003) Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33: 459-461

    PubMed  CAS  Google Scholar 

  7. Anderson HR, Cook DG (1997) Passive smoking and sudden infant death syndrome: Review of the epidemiological evidence. Thorax 52: 1003-1009

    PubMed  CAS  Google Scholar 

  8. Arnestad M, Crotti L, Rognum TO, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Wang DW, Rhodes TE, George AL, Schwartz PJ (2007) Prevalence of long-QT syndrome gene variants in sudden infant death syndrome. Circulation 115: 361367

    Google Scholar 

  9. Bartsch H, Nair U, Risch A, Rojas M, Wikman H, Alexandrov K (2000) Genetic polymorphism of CYP genes, alone or in combination, as a risk modifier of tobacco-related cancers. Cancer Epideml Biomar 9: 3-28

    CAS  Google Scholar 

  10. Battersby S, Ogilvie AD, Blakwood DH, Shen S, Muqit MM, Muir WJ, Teague P, Goodwin GM, Harmar AJ (1999) Presence of multiple functional polyadenylation signals and a single nucleotide polymorphism in the 3’ untranslated region of the human serotonin transporter gene. J Neurochem 72: 1384-1388

    PubMed  CAS  Google Scholar 

  11. Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE (2006) Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med 174: 1139-1144

    PubMed  CAS  Google Scholar 

  12. Blair PS, Fleming PJ, Bensley D, Smith I, Bacon C, Taylor E, Berry J, Golding J, Tripp J (1996) Smoking and the sudden infant death syndrome: results from 1993-5 case-control study for confidential inquiry into stillbirths and deaths in infancy. Confidential enquiry into stillbirths and deaths regional coordinators and researchers. Brit Med J 313: 195-198

    PubMed  CAS  Google Scholar 

  13. Brooke H, Gibson A, Tappin D, Brown H (1997) Case-control study of sudden infant death syndrome in Scotland, 1992-5. Brit Med J 314: 1516-1520

    PubMed  CAS  Google Scholar 

  14. Bruning G, Liangos O, Baumgarten HG (1997) Prenatal development of the serotonin transporter in mouse brain. Cell Tissue Res 289: 211-221

    PubMed  CAS  Google Scholar 

  15. Burton MD, Kawashima A, Brayer JA, Kazemi H, Shannon DC, Schuchardt A, Costantini F, Pachnis V, Kinane TB (1997) RET proto-oncogene is important for the development of respiratory CO2 sensitivity. J Autonom Nerv Syst 63: 137143

    Google Scholar 

  16. Christiansen M, Tonder N, Larsen LA, Andersen PS, Simonsen H, Oyen N, Kanters JK, Jacobsen JR, Fosdal I, Wettrell G, Kjeldsen (2005) Mutations in the HERG K^+-ion channel: a novel link between long QT syndrome and sudden infant death syndrome. Am J Cardiol 95: 433-434

    PubMed  CAS  Google Scholar 

  17. Collier DA, Arranz MJ, Sham P, Battersby S, Vallada H, Gill P, Aitchison KJ, Sodhi M, Li T, Roberts GW, Smith G, Morton J, Murray RM, Smith D, Kirov G (1996) The serotonin transporter is a potential susceptibility factor for bipolar affective disorder. Neuroreport 7: 1675-1679

    PubMed  CAS  Google Scholar 

  18. Collier DA, Stober G, Li T, Heils A, Catalano M, Di Bella D, Arranz MJ, Murray RM, Vallada HP, Bengel D, Muller CR, Roberts GW, Smeraldi E, Kirov G, Sham P, Lesch KP (1996) A novel functional polymorphism within the promoter of the serotonin transporter gene: possible role in susceptibility to affective disorders. Mol Psychiatr 1: 453-460

    CAS  Google Scholar 

  19. Cronk LB, Ye B, Kaku T, Tester DJ, Vatta M, Makielski JC, Ackerman MJ (2007) Novel Mechanism for Sudden Infant Death Syndrome (SIDS): Persistent late sodium current secondary to mutations in Caveolin-3. Heart Rhythm 4: 161166

    Google Scholar 

  20. Curran S, Purcell S, Craig I, Asherson P, Sham P (2005) The serotonin transporter gene as a QTL for ADHD. Am J Med Genet B Neuropsychiatr Genet 134: 42-47

    PubMed  Google Scholar 

  21. Du L, Bakish D, Hrdina PD (2000) Gender differences in association between serotonin transporter gene polymorphism and personality traits. Psychiatr Gene 10: 159-164

    CAS  Google Scholar 

  22. Filiano JJ, Kinney HC (1994) A perspective on neuropathologic findings in victims of the sudden infant death syndrome: the triple-risk model. Biol Neonate 65: 194-197

    PubMed  CAS  Google Scholar 

  23. Fiskerstrand CE, Lovejoy EA, Quinn JP (1999) An intronic polymorphic domain often associated with susceptibility to affective disorders has allele dependent differential enhancer activity in embryonic stem cells. FEBS Lett 458: 171-174

    PubMed  CAS  Google Scholar 

  24. Fleming PJ, Gilbert R, Azaz Y, Berry PJ, Rudd PT, Stewart A, Hall E (1990) Interaction between bedding and sleeping position in the sudden infant death syndrome: a population based case-control study. Brit Med J 301: 85-89

    PubMed  CAS  Google Scholar 

  25. Franco P, Chabanski S, Szliwowski H, Dramaix M, Kahn A (2000) Influence of maternal smoking on autonomic nervous system in healthy infants. Pediatr Res 47: 215-20.

    PubMed  CAS  Google Scholar 

  26. Franco P, Szliwowski H, Dramaix M, Kahn A (1999) Decreased autonomic responses to obstructive sleep events in future victims of sudden infant death syndrome. Pediatr Res 46: 33-39

    PubMed  CAS  Google Scholar 

  27. Garcia-Barcelo M, Sham MH, Lui VC, Chen BL, Ott J, Tam PK (2003) Association study of PHOX2B as a candidate gene for Hirschsprung’s disease. Gut 52: 563-567

    PubMed  CAS  Google Scholar 

  28. Gelernter J, Cubells JF, Kidd JR, Pakstis AJ, Kidd KK (1999) Population studies of polymorphisms of the serotonin transporter protein gene. Am J Med Genet 88: 61-66

    PubMed  CAS  Google Scholar 

  29. Gelernter J, Kranzler H, Coccaro EF, Siever LJ, New AS (1998) Serotonin transporter protein gene polymorphism and personality measures in African American and European American subjects. Am J Psychiatr 155: 1332-1338

    PubMed  CAS  Google Scholar 

  30. Goulene K S-BM, Crotti L, Priori SG, Salice P, Mannarino S, Rosati E, Schwartz PJ (2005) Neonatal electrocardiographic screening of genetic arrhythmogenic disorders and congenital cardiovascular diseases: prospective data from 31,000 infants. Eur Heart J 26: 214

    Google Scholar 

  31. Hariri AR, Mattay VS, Tessitore A, Kolachana B, Fera F, Goldman D, Egan MF, Weinberger DR (2002) Serotonin transporter genetic variation and the response of the human amygdala. Science. 297: 400-403

    PubMed  CAS  Google Scholar 

  32. Hayashi S, Watanabe J, Kawajiri K (1992) High susceptibility to lung cancer analyzed in terms of combined genotypes of P450IA1 and Mu-class glutathione S-transferase genes. Jpn J Cancer Res 83: 866-870

    PubMed  CAS  Google Scholar 

  33. Heils A, Teufel A, Petri S, Stober G, Riederer P, Bengel D, Lesch KP (1996) Allelic variation of human serotonin transporter gene expression. J Neurochem 66: 2621-2624

    PubMed  CAS  Google Scholar 

  34. Heinz A, Jones DW, Mazzanti C, Goldman D, Ragan P, Hommer D, Linnoila M, Weinberger DR (2000) A relationship between serotonin transporter genotype and in vivo protein expression and alcohol neurotoxicity. Biol Psychiat 47: 643649

    Google Scholar 

  35. Hirsch MR, Tiveron MC, Guillemot F, Brunet JF, Goridis C (1998) Control of noradrenergic differentiation and Phox2a expression by MASH1 in the central and peripheral nervous system. Development 125: 599-608

    PubMed  CAS  Google Scholar 

  36. Hoyert DL, Heron MP, Murphy SL, Kung HC (2006) Deaths: final data for 2003. Natl Vital Stat Rep 54: 1-120

    PubMed  Google Scholar 

  37. Hu S, Brody CL, Fisher C, Gunzerath L, Nelson ML, Sabol SZ, Sirota LA, Marcus SE, Greenberg BD, Murphy DL, Hamer DH (2000) Interaction between the serotonin transporter gene and neuroticism in cigarette smoking behavior. Mol Psychiatr 5: 181-188

    CAS  Google Scholar 

  38. Ishibe N, Wiencke JK, Zuo ZF, McMillan A, Spitz M, Kelsey KT (1997) Susceptibility to lung cancer in light smokers associated with CYP1A1 polymorphisms in Mexican and African-Americans. Cancer Epiderm Bimar 6: 1075-1080

    CAS  Google Scholar 

  39. Ishiguro H, Saito T, Akazawa S, Mitushio H, Tada K, Enomoto M, Mifune H, Toru M, Shibuya H, Arinami T (1999) Association between drinking-related antisocial behavior and a polymorphism in the serotonin transporter gene in a Japanese population. Alcohol Clin Exp Res 23: 1281-1284

    PubMed  CAS  Google Scholar 

  40. Jacobs BL, Azmitia EC (1992) Structure and function of the brain serotonin system. Physiol Rev 72: 165-229

    PubMed  CAS  Google Scholar 

  41. Kahn A, Groswasser J, Rebuffat E, Sottiaux M, Blum D, Foerster M, Franco P, Bochner A, Alexander M, Bachy A (1992) Sleep and cardiorespiratory characteristics of infant victims of sudden death: a prospective case-control study. Sleep 15: 287-292

    PubMed  CAS  Google Scholar 

  42. Kai B (2003) Maternal and child health statistics of Japan

    Google Scholar 

  43. Katsuragi S, Kunugi H, Sano A, Tsutsumi T, Isogawa K, Nanko S, Akiyoshi J (1999) Association between serotonin transporter gene polymorphism and anxiety-related traits. Biol Psychiat 45: 368-370

    PubMed  CAS  Google Scholar 

  44. Kijima K, Sasaki A, Niki T, Umetsu K, Osawa M, Matoba R, Hayasaka K (2004) Sudden infant death syndrome is not associated with the mutation of PHOX2B gene, a major causative gene of congenital central hypoventilation syndrome. Tohoku J Exp Med 203: 65-68

    PubMed  CAS  Google Scholar 

  45. Kinney HC, Randall LL, Sleeper LA, Willinger M, Belliveau RA, Zec N, Rava LA, Dominici L, Iyasu S, Randall B, Habbe D, Wilson H, Mandel F, McClain, Welty TK (2003) Serotonergic brainstem abnormalities in Northern Plains Indians with the sudden infant death syndrome. J Neuropathol Exp Neurol 62: 11781191

    Google Scholar 

  46. Kochanek KD, Hudson BL (1995) Advance Report of Final Mortality Statistics, 1992 Hyattsville, MD: National Center for Health Statistics

    Google Scholar 

  47. Kotamaki M (1995) Smoking induced differences in autonomic responses in military pilot candidates. Clin Auton Res 5: 31-36

    PubMed  CAS  Google Scholar 

  48. Ledwidge M, Fox G, Matthews T (1998) Neurocardiogenic syncope: a model for SIDS. Arch Dis Child 78: 481-483

    PubMed  CAS  Google Scholar 

  49. Lerman C, Shields PG, Audrain J, Main D, Cobb B, Boyd NR, Caporaso N (1998) The role of the serotonin transporter gene in cigarette smoking. Cancer Epidem Biomar 7: 253-255

    CAS  Google Scholar 

  50. Lesch KP, Balling U, Gross J, Strauss K, Wolozin BL, Murphy DL, Riederer P (1994) Organization of the human serotonin transporter gene. J Neural Trans Gen Sec 95: 157-162

    CAS  Google Scholar 

  51. Lesch KP, Bengel D, Heils A, Sabol SZ, Greenberg BD, Petri S, Benjamin J, Muller CR, Hamer DH, Murphy DL (1996) Association of anxiety-related traits with a polymorphism in the serotonin transporter gene regulatory region. Science 274: 1527-1531

    PubMed  CAS  Google Scholar 

  52. Little KY, McLaughlin DP, Zhang L, Livermore CS, Dalack GW, McFinton PR, Del Proposto ZS, Hill E, Cassin BJ, Watson SJ, Cook EH (1998) Cocaine, ethanol, and genotype effects on human midbrain serotonin transporter binding sites and mRNA levels. Am J Psychiat 155: 207-213

    PubMed  CAS  Google Scholar 

  53. Lo L, Morin X, Brunet JF, Anderson DJ (1999) Specification of neurotransmitter identity by Phox2 proteins in neural crest stem cells. Neuron 22: 693-705

    PubMed  CAS  Google Scholar 

  54. Lo L, Tiveron MC, Anderson DJ (1998) MASH1 activates expression of the paired homeodomain transcription factor Phox2a, and couples pan-neuronal and subtype-specific components of autonomic neuronal identity. Development 125: 609-620

    PubMed  CAS  Google Scholar 

  55. Lovejoy EA, Scott AC, Fiskerstrand CE, Bubb VJ, Quinn JP (2003) The serotonin transporter intronic VNTR enhancer correlated with a predisposition to affective disorders has distinct regulatory elements within the domain based on the primary DNA sequence of the repeat unit. Eur J Neurosci 17: 417-420

    PubMed  CAS  Google Scholar 

  56. Lucini D, Bertocchi F, Malliani A, Pagani M (1996) A controlled study of the autonomic changes produced by habitual cigarette smoking in healthy subjects. Cardiovasc Res 31: 633-639

    PubMed  CAS  Google Scholar 

  57. MacDorman MF, Cnattingius S, Hoffman HJ, Kramer MS, Haglund B (1997) Sudden infant death syndrome and smoking in the United States and Sweden. Am J Epidemiol 146: 249-257

    PubMed  CAS  Google Scholar 

  58. MacKenzie A, Quinn J (1999) A serotonin transporter gene intron 2 polymorphic region, correlated with affective disorders, has allele-dependent differential enhancer-like properties in the mouse embryo. Proc Natl Acad Sci USA 96: 1525115255

    Google Scholar 

  59. Maher BS, Marazita ML, Rand C, Zhou L, Berry-Kravis EM, Weese-Mayer DE (2006) 3’ UTR polymorphism of the serotonin transporter gene and sudden infant death syndrome: haplotype analysis. Am J Med Genet 140: 1453-1457

    Google Scholar 

  60. Marazita ML, Maher BS, Cooper ME, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Weese-Mayer DE (2001) Genetic segregation analysis of autonomic nervous system dysfunction in families of probands with idiopathic congenital central hypoventilation syndrome. Am J Med Genet 100: 229-236

    PubMed  CAS  Google Scholar 

  61. Maron BJ, Clark CE, Goldstein RE, Epstein SE (1976) Potential role of QT interval prolongation in sudden infant death syndrome. Circulation 54: 423-430

    PubMed  CAS  Google Scholar 

  62. Matera, I, Bachetti T, Puppo F, Di Duca M, Morandi F, Casiraghi GM, Cilio MR, Hennekam R, Hofstra R, Schober JG, Ravazzolo R, Ottonello G, Ceccherini I (2004) PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. J Med Genet 41: 373-380

    PubMed  CAS  Google Scholar 

  63. Melke J, Westberg L, Landen M, Sundblad C, Eriksson O, Baghei F, Rosmond R, Eriksson E, Ekman A (2003) Serotonin transporter gene polymorphisms and platelet [3H] paroxetine binding in premenstrual dysphoria. Psychoneuroendocrino 28: 446-458

    CAS  Google Scholar 

  64. Meny RG, Carroll JL, Carbone MT, Kelly DH (1994) Cardiorespiratory recordings from infants dying suddenly and unexpectedly at home. Pediatrics 93: 44-49

    PubMed  CAS  Google Scholar 

  65. Mitchell EA, Tuohy PG, Brunt JM, Thompson JM, Clements MS, Stewart AW, Ford RP, Taylor BJ (1997) Risk factors for sudden infant death syndrome following the prevention campaign in New Zealand: a prospective study. Pediatrics 100: 835-840

    PubMed  CAS  Google Scholar 

  66. Minino AM, Smith BL (2001) Deaths: preliminary data for 2000. National Vital Statistics Reports 49: 1-40

    CAS  Google Scholar 

  67. Moiseiwitsch JR, Lauder JM (1995) Serotonin regulates mouse cranial neural crest migration. Proc Natl Acad Sci USA 92: 7182-7186

    PubMed  CAS  Google Scholar 

  68. Moss AJ, Robinson JL, Gessman L, Gillespie R, Zareba W, Schwartz PJ, Vincent GM, Benhorin J, Heilbron EL, Towbin JA, Priori SG, Napolitano C, Zhang L, Medina A, Andrews ML, Timothy K (1999) Comparison of clinical and genetic variables of cardiac events associated with loud noise versus swimming among subjects with the long QT syndrome. Am J Cardiol 84: 876-879

    PubMed  CAS  Google Scholar 

  69. Nakachi K, Imai K, Hayashi S, Kawajiri K (1993) Polymorphisms of the CYP1A1 and glutathione S-transferase genes associated with susceptibility to lung cancer in relation to cigarette dose in a Japanese population. Cancer Res 53: 2994-2999

    PubMed  CAS  Google Scholar 

  70. Nakamura T, Muramatsu T, Ono Y, Matsushita S, Higuchi S, Mizushima H, Yoshimura K, Kanba S, Asai M (1997) Serotonin transporter gene regulatory region polymorphism and anxiety-related traits in the Japanese. Am J Med Genet 74: 544-545

    PubMed  CAS  Google Scholar 

  71. Narita N, Narita M, Takashima S, Nakayama M, Nagai T, Okado N (2001) Serotonin transporter gene variation is a risk factor for sudden infant death syndrome in the Japanese population. Pediatrics 107: 690-692

    PubMed  CAS  Google Scholar 

  72. Niedermaier ON, Smith ML, Beightol LA, Zukowska-Grojec Z, Goldstein DS, Eckberg DL (1993) Influence of cigarette smoking on human autonomic function. Circulation 88: 562-571

    PubMed  CAS  Google Scholar 

  73. Ogilvie AD, Battersby S, Bubb VJ, Fink G, Harmar AJ, Goodwim GM, Smith CA (1996) Polymorphism in serotonin transporter gene associated with susceptibility to major depression. Lancet 347: 731-733

    PubMed  CAS  Google Scholar 

  74. Osher Y, Hamer D, Benjamin J (2000) Association and linkage of anxiety-related traits with a functional polymorphism of the serotonin transporter gene regulatory region in Israeli sibling pairs. Mol Psychiatr 5: 216-219

    CAS  Google Scholar 

  75. Ozawa Y, Okado N (2002) Alteration of serotonergic receptors in the brainstems of human patients with respiratory disorders. Neuropediatrics 33: 142-149

    PubMed  CAS  Google Scholar 

  76. Panigrahy A, Filiano J, Sleeper LA, Mandell F, Valdes-Dapena M, Krous HF, Rava LA, Foley E, White WF, Kinney HC (2000) Decreased serotonergic receptor binding in rhombic lip-derived regions of the medulla oblongata in the sudden infant death syndrome. J Neuropathol Exp Neurol 59: 377-384

    PubMed  CAS  Google Scholar 

  77. Paterson DS, Trachtenbert FL, Thompson EG, Belliveau RA, Beggs AH, Darnall RA, Chadwick AE, Krous HF, Kinney HC (2006) Multiple serotonergic brain-stem abnormalities in the Sudden Infant Death Syndrome. JAMA 296: 2124-2132

    PubMed  CAS  Google Scholar 

  78. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF (1997) Expression and interactions of the two closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development 124: 4065-4075

    PubMed  CAS  Google Scholar 

  79. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF (1999) The homeobox gene Phox2b is essential for the development of autonomic neural crest derivatives. Nature 399: 366-370

    PubMed  CAS  Google Scholar 

  80. Pattyn A, Simplicio N, van Doorninck JH, Goridis C, Guillemot F, Brunet JF (2004) Ascl1/Mash1 is required for the development of central serotonergic neurons. Nat Neurosci 7: 589-595

    PubMed  CAS  Google Scholar 

  81. Pattyn A, Vallstedt A, Dias JM, Samad OA, Krumlauf R, Rijli FM, Brunet JF, Ericson J (2003) Coordinated temporal and spatial control of motor neuron and serotonergic neuron generation from a common pool of CNS progenitors. Gene Dev 17: 729-737

    PubMed  CAS  Google Scholar 

  82. Piha SJ (1994) Cardiovascular autonomic reflexes in heavy smokers. J Auton Nerv Syst 48: 73-77

    PubMed  CAS  Google Scholar 

  83. Plant LD, Bowers PN, Liu Q, Morgan T, Zhang T, State MW, Chen W, Kittles RA, Goldstein SA (2006) A common cardiac sodium channel variant associated with sudden infant death in African Americans, SCN5A S1103Y. J Clin Invest 116: 430-435

    PubMed  CAS  Google Scholar 

  84. Ponsonby AL, Dwyer T, Gibbons LE, Cochrane JA, Jones ME, McCall MJ (1992) Thermal environment and sudden infant death syndrome: case-control study. Brit Med J 304: 277-282

    PubMed  CAS  Google Scholar 

  85. Pope CA, 3rd, Eatough DJ, Gold DR, Pang Y, Nielsen KR, Nath P, Verrier RL, Kanner RE (2001) Acute exposure to environmental tobacco smoke and heart rate variability. Environ Health Perspect 109: 711-716

    PubMed  CAS  Google Scholar 

  86. Quaglini S, Rognoni C, Spazzolini C, Priori SG, Mannarino S, Schwartz PJ (2006) Cost-effectiveness of neonatal ECG screening for the long QT syndrome. Eur Heart J 27: 1824-1832

    PubMed  Google Scholar 

  87. Ramamoorthy S, Bauman AL, Moore KR, Han H, Yang-Feng T, Chang AS, Ganapathy V, Blakely RD (1993) Antidepressant- and cocaine-sensitive human serotonin transporter: molecular cloning, expression, and chromosomal localization. Proc Natl Acad Sci U A 90: 2542-2546

    CAS  Google Scholar 

  88. Rand CM, Weese-Mayer DE, Maher BS, Cooper ME, Marazita ML, Berry-Kravis EM (2006) Sudden infant death syndrome: Case-control frequency differences in paired like homeobox (PHOX) 2B gene. Am J Med Genet 140: 16871691

    Google Scholar 

  89. Rand CM, Weese-Mayer DE, Maher BS, Zhou L, Marazita ML, Berry-Kravis EM (2006) Nicotine metabolizing genes GSTT1 and CYP1A1 in sudden infant death syndrome. Am J Med Genet 140: 1447-1452

    Google Scholar 

  90. Renolleau S, Dauger S, Vardon G, Levacher B, Simonneau M, Yanagisawa M, Gaultier C, Gallego J (2001) Impaired ventilatory responses to hypoxia in mice deficient in endothelin-converting-enzyme-1. Pediatr Res 49: 705-712

    PubMed  CAS  Google Scholar 

  91. Sasaki A, Kanai M, Kijima K, Akaba K, Hashimoto M, Hasegawa H, Otaki S, Koizumi T, Kusuda S, Ogawa Y, Tuchiya K, Yamamoto W, Nakamura T, Hayasaka K (2003) Molecular analysis of congenital central hypoventilation syndrome. Hum Genet 114: 22-26

    PubMed  CAS  Google Scholar 

  92. Schechtman VL, Harper RM, Kluge KA, Wilson AJ, Hoffman HJ, Southall DP (1988) Cardiac and respiratory patterns in normal infants and victims of the sudden infant death syndrome. Sleep 11: 413-424

    PubMed  CAS  Google Scholar 

  93. Schwartz PJ (1976) Cardiac sympathetic innervation and the sudden infant death syndrome. A possible pathogenetic link. Am J Med 60: 167-172

    PubMed  CAS  Google Scholar 

  94. Schwartz PJ, Priori SG, Bloise R, Napolitano C, Ronchetti E, Piccinini A, Goj C, Breithardt G, Schulze-Bahr E, Wedekind H, Nastoli J (2001) Molecular diagnosis in a child with sudden infant death syndrome. Lancet 358: 1342-1343

    PubMed  CAS  Google Scholar 

  95. Schwartz PJ, Priori SG, Dumaine R, Napolitano C, Antzelevitch C, Stramba-Badiale M, Richard TA, Berti MR, Bloise R (2000) A molecular link between the sudden infant death syndrome and the long-QT syndrome. N Engl J Med 343: 262-267

    PubMed  CAS  Google Scholar 

  96. Schwartz PJ, Priori SG, Spazzolini C, Moss AJ, Vincent GM, Napolitano C, Den-joy I, Guicheney P, Breithardt G, Keating MT, Towbin JA, Beggs AH, Brink P, Wilde AA, Toivonen L, Zareba W, Robinson JL, Timothy KW, Corfield V, Wattanasirichaigoon D, Corbett C, Haverkamp W, Schulze-Bahr E, Lehmann MH, Schwartz K, Coumel P, Bloise R (2001) Genotype-phenotype correlation in the long-QT syndrome: gene-specific triggers for life-threatening arrhythmias. Circulation 103: 89-95

    PubMed  CAS  Google Scholar 

  97. Schwartz PJ, Stramba-Badiale M, Segantini A, Austoni P, Bosi G, Giorgetti R, Grancini F, Marni ED, Perticone F, Rosti D, Salice P (1998) Prolongation of the QT interval and the sudden infant death syndrome. N Engl J Med 338: 1709-1714

    PubMed  CAS  Google Scholar 

  98. Shirasawa S, Arata A, Onimaru H, Roth KA, Brown GA, Horning S, Arata S, Okumura K, Sasazuki T, Korsmeyer SJ (2000) Rnx deficiency results in congenital central hypoventilation. Nat Genet 24: 287-290

    PubMed  CAS  Google Scholar 

  99. Sun Z, Milos PM, Thompson JF, Lloyd DB, Mank-Seymour A, Richmond J, Cordes JS, Zhou J (2004) Role of a KCNH2 polymorphism (R1047 L) in dofetilide-induced Torsades de Pointes. J Mol Cell Cardiol 37: 1031-1039

    PubMed  CAS  Google Scholar 

  100. Taylor BJ, Williams SM, Mitchell EA, Ford RP (1996) Symptoms, sweating and reactivity of infants who die of SIDS compared with community controls. New Zealand National Cot Death Study Group. J Paediatr Child Health 32: 316-322

    PubMed  CAS  Google Scholar 

  101. Tester DJ, Ackerman MJ (2005) Sudden infant death syndrome: how significant are the cardiac channelopathies? Cardiovasc Res 67: 388-396

    PubMed  CAS  Google Scholar 

  102. Tester DJ, Dura M, Carturan E, Reiken S, Wronska A, Marks AR, Ackerman MJ (2007) A mechanism for sudden infant death syndrome (SIDS): stress-induced leak via ryanodine receptors. Heart Rhythm, in press

    Google Scholar 

  103. Trochet, D, O’Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, Niemann S, Munnich A, Gaultier C, Lyonnet L, Amiel J (2005) PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 76: 421-426

    PubMed  CAS  Google Scholar 

  104. Vatta M, Ackerman MJ, Ye B, Makielski JC, Ughanze EE, Taylor EW, Tester DJ, Balijepalli RC, Foell JD, Li Z, Kamp TJ, Towbin JA (2006) Mutant caveolin3 induces persistent late sodium current and is associated with long QT Syndrome. Circulation 114: 2104-2112

    PubMed  CAS  Google Scholar 

  105. Wang DW, Desai RR, Crotti L, Arnestad M, Insolia R, Pedrazzini M, Ferrandi C, Vege A, Rognum T, Schwartz PJ, George AL (2007) Cardiac sodium channel dysfunction in sudden infant death syndrome. Circulation. 115: 368-376

    PubMed  CAS  Google Scholar 

  106. Wang X, Zuckerman B, Pearson C, Kaufman G, Chen C, Wang G, Niu T, Wise PH, Bauchner H, Xu X (2002) Maternal cigarette smoking, metabolic gene polymorphism, and infant birth weight. JAMA 287: 195-202

    PubMed  CAS  Google Scholar 

  107. Weese-Mayer DE, Berry-Kravis EM, Maher BS, Silvestri JM, Curran ME, Marazita ML (2003) Sudden infant death syndrome: association with a promoter polymorphism of the serotonin transporter gene. Am J Med Genet 117: 268-274

    Google Scholar 

  108. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Curran ME, Silvestri JM, Marazita ML (2004) Sudden infant death syndrome: case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development. Pediatr Res 56: 391-395

    PubMed  CAS  Google Scholar 

  109. Weese-Mayer DE, Berry-Kravis EM, Zhou L, Maher BS, Silvestri JM, Curran ME, Marazita ML (2003) Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2B. Am J Med Genet 123: 267-278

    Google Scholar 

  110. Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM (1999) American Thoracic Society Statement on the diagnosis and management of idiopathic congenital central hypoventilation syndrome. Am J Respir Crit Care Med 160: 368-373

    Google Scholar 

  111. Weese-Mayer DE, Silvestri JM, Huffman AD, Smok-Pearsall SM, Kowal MH, Maher BS, Cooper ME, Marazita ML (2001) Case/control family study of autonomic nervous system dysfunction in idiopathic congenital central hypoventilation syndrome. Am J Med Genet 100: 237-245

    PubMed  CAS  Google Scholar 

  112. Weese-Mayer DE, Silvestri JM, Marazita ML, Hoo JJ (1993) Congenital central hypoventilation syndrome: inheritance and relation to sudden infant death syndrome. Am J Med Genet 47: 360-367

    PubMed  CAS  Google Scholar 

  113. Weese-Mayer DE, Zhou L, Berry-Kravis EM, Maher BS, Silvestri JM, Marazita ML (2003) Association of the serotonin transporter gene with sudden infant death syndrome: a haplotype analysis. Am J Med Genet 122: 238-245

    Google Scholar 

  114. Wilde AA, Jongbloed RJ, Doevendans PA, Duren DR, Hauer RN, van Langen IM, van Tintelen JP, Smeets HJ, Meyer H, Geelen JL (1999) Auditory stimuli as a trigger for arrhythmic events differentiate HERG-related (LQTS2) patients from KVLQT1-related patients (LQTS1). J Am Coll Cardiol 33: 327-332

    PubMed  CAS  Google Scholar 

  115. Zhou FC, Sari Y, Zhang JK (2000) Expression of serotonin transporter protein in developing rat brain. Brain Res Dev Brain Res 119: 33-45

    PubMed  CAS  Google Scholar 

Download references

Author information

Authors and Affiliations

  1. Pediatric Respiratory Medicine, Rush Children’s Hospital, Rush University Medical Center, 1653 West Congress Parkway, Chicago Illinois, Chicago, IL 60612

    Debra E. Weese-Mayer

  2. Department of Pediatrics, Medicine, Molecular Pharmacology & Experimental Therapeutics, Mayo Clinic College of Medicine, 200 First St. S.W, Rochester, Minnesota 55905, U.S.A

    Michael J. Ackerman

  3. Center for Craniofacial and Dental Genetics, Division of Oral Biology, Oral and Maxillofacial Surgery, Human Genetics, Graduate School of Public Health, University of Pittsburgh/School of Dental Medicine, 100 Technology Drive, Suite 500, Cellomics Building, Pittsburgh, Pennsylvania 55905, U.S.A

    Mary L. Marazita

  4. Departments of Neurology, Pediatrics, and Biochemistry, Rush University Medical Center, 1653 W. Congress Parkway, Chicago, Illinois 60612, U.S.A.

    Elizabeth M. Berry-Kravis

Authors
  1. Debra E. Weese-Mayer
    View author publications

    You can also search for this author in PubMed Google Scholar

  2. Michael J. Ackerman
    View author publications

    You can also search for this author in PubMed Google Scholar

  3. Mary L. Marazita
    View author publications

    You can also search for this author in PubMed Google Scholar

  4. Elizabeth M. Berry-Kravis
    View author publications

    You can also search for this author in PubMed Google Scholar

Rights and permissions

Reprints and permissions

Copyright information

© 2008 Springer Science+Business Media, LLC

About this chapter

Cite this chapter

Weese-Mayer, D.E., Ackerman, M.J., Marazita, M.L., Berry-Kravis, E.M. (2008). Sudden infant death syndrome: study of genes pertinent to cardiorespiratory and autonomic regulation. In: Genetic Basis for Respiratory Control Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-70765-5_7

Download citation

Publish with us

Policies and ethics

Search

Navigation