Sudden infant death syndrome: Case-control frequency differences at genes pertinent to early autonomic nervous system embryologic development

Pediatric Research

Volumn 56, Issue 3, 2004, Pages 391-395

  Weese Mayer, Debra E ^a   Berry Kravis, Elizabeth M ^a   Zhou, Lili ^a   Maher, Brion S ^b   Curran, Mark E ^c   Silvestri, Jean M ^a   Marazita, Mary L ^b,d  

^a Rush Children's Hospital and Rush University Medical Center   (United States)

^b UNIVERSITY OF PITTSBURGH   (United States)

^c DNA Sciences Inc   (United States)

^d UNIVERSITY OF PITTSBURGH GRADUATE SCHOOL OF PUBLIC HEALTH   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

BONE MORPHOGENETIC PROTEIN 2; ENDOTHELIN 1;

AFRICAN AMERICAN; ALLELE; ARTICLE; AUTONOMIC NERVOUS SYSTEM; AUTONOMIC NEUROPATHY; BMP2 GENE; CONTROLLED STUDY; EMBRYO DEVELOPMENT; ENDOTHELIN CONVERTING ENZYME 1 GENE; ENGRAILED 1 GENE; ETHNIC DIFFERENCE; FEMALE; GENE; GENE FREQUENCY; GENE MUTATION; GENETIC ANALYSIS; GENETIC POLYMORPHISM; GENETIC RISK; HOMEOBOX; HUMAN; HUMAN TISSUE; INFANT; INTRON; MAJOR CLINICAL STUDY; MALE; MASH1 GENE; MUTATIONAL ANALYSIS; NERVOUS SYSTEM DEVELOPMENT; NEWBORN; PAIRED LIKE HOMEOBOX 2A GENE; PAIRED LIKE HOMEOBOX 2B GENE; PRIORITY JOURNAL; PROMOTER REGION; REARRANGED DURING TRANSCRIPTION FACTOR GENE; SUDDEN INFANT DEATH SYNDROME; T CELL LEUKEMIA HOMEOBOX GENE;

EID: 4344683983     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/01.PDR.0000136285.91048.4A     Document Type: Article

References (49)

1. Willinger M, James LS, Catz C 1991 Defining the sudden infant death syndrome (SIDS): deliberations of an expert panel convened by the National Institute of Child Health and Human Development. Pediatr Pathol 11:677-684
2. Kochanek KD, Hudson BL 1995 Advance report of final mortality statistics, 1992. Mon Vital Stat Rep 43(65):10-12.
3. Arias E, MacDorman MF, Strobino DM, Guyer B 2003 Annual summary of vital statistics-2002. Pediatrics 112:1215-1230
4. Panigrahy A, Filiano J, Sleeper LA, Mandell F, Valdes-Dapena M, Krous HF, Rava LA, Foley E, White WF, Kinney HC 2000 Decreased serotoninergic receptor binding in rhombic lip-derived regions of the medulla oblongata in the sudden infant death syndrome. J Neuropathol Exp Neurol 59:377-384
5. Ozawa Y, Okado N 2002 Alteration of serotonergic receptors in the brain stems of human patients with respiratory disorders. Neuropediatrics 33:142-149
6. 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
7. 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 117A:268-274
8. 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 122A:238-245
9. Jacobs BL, Azmitia EC 1992 Structure and function of the brain serotonin system. Physiol Rev 72:165-229
10. Kahn A, Groswasser J, Rebuffat E, Sottiaux M, Blum D, Foerster M, Franco P, Bochner A, Alexander M, Bachy A, Richard P, Verghote M, Le Polain D, Wayenberg JL 1992 Sleep and cardiorespiratory characteristics of infant victims of sudden death: a prospective case-control study. Sleep 15:287-292
11. 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. BMJ 301:85-89
12. Ponsonby AL, Dwyer T, Gibbons LE, Cochrane JA, Jones ME, McCall MJ 1992 Thermal environment and sudden infant death syndrome: case-control study, BMJ 304:277-282
13. Meny RG, Carroll JL, Carbone MT, Kelly DH 1994 Cardiorespiratory recordings from infants dying suddenly and unexpectedly at home. Pediatrics 93:44-49
14. 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
15. Ledwidge M, Fox G, Matthews T 1998 Neurocardiogenic syncope: a model for SIDS. Arch Dis Child 78:481-483
16. Franco P, Szliwowski H, Dramaix M, Kahn A 1998 Polysomnographic study of the autonomic nervous system in potential victims of sudden infant death syndrome. Clin Auton Res 8:243-249
17. Taylor BJ, Williams SM, Mitchell EA, Ford RP 1996 Symptoms, sweating and reactivity of infants who die of SIDS compared with community controls. The New Zealand National Cot Death Study Group. J Paediatr Child Health 32:316-322
18. 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
19. Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM 1999 American Thoracic Society Statement: idiopathic congenital central hypoventilation syndrome. Diagnosis and management. Am J Respir Crit Care Med 160:368-373
20. 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
21. 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
22. 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
23. Amiel J, Laudier B, Attié-Bitach T, Trang H, de Pontual L, Gener B, Trochet D, Etchevers H, Ray P, Simonneau M, Vekemans M, Munnich A, Gaultier C, Lyonnet S 2003 Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nat Genet 33:459-461
24. 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 123A:267-278
25. 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
26. Lo L, Sommer L, Anderson DJ 1997 MASH1 maintains competence for BMP2-induced neuronal differentiation in post-migratory neural crest cells. Curr Biol 7:440-450
27. Lo L, Guillemot F, Joyner AL, Anderson DJ 1994 MASH-1: a marker and a mutation for mammalian neural crest development. Perspect Dev Neurobiol 2:191-201
28. Guillemot F, Lo LC, Johnson JE, Auerbach A, Anderson DJ, Joyner AL 1993 Mammalian achaete-scute Homolog 1 is required for the early development of olfactory and autonomic neurons. Cell 75:463-476
29. Dauger S, Renolleau S, Vardon G, Népote V, Mas C, Simonneau M, Gaultier C, Gallego J 1999 Ventilatory responses to hypercapnia and hypoxia in Mash-1 heterozygous newborn and adult mice. Pediatr Res 46:535-542
30. Johnson JE, Birren SJ, Anderson DJ 1990 Two rat homologues of Drosophila achaete-scute specifically expressed in neuronal precursors. Nature 346:358-361
31. 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
32. 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
33. Lo L, Tiveron M, Anderson DJ 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, 1998
34. Pattyn A, Morin X, Cremer H, Goridis C, Brunet JF 1997 Expression and interactions of the closely related homeobox genes Phox2a and Phox2b during neurogenesis. Development 124:4065-4075
35. 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
36. Bolk S, Angrist M, Schwartz S, Silvestri JM, Weese-Mayer DE, Chakravarti A 1996 Congenital central hypoventilation syndrome: mutation analysis of the receptor tyrosine kinase. RET. Am J Med Genet 63:603-609
37. Amiel J, Salomon R, Attié T, Pelet A, Trang H, Mokhtari M, Gaultier C, Munnich A, Lyonnet S 1998 Mutations of the RET-GDNF signaling pathway in Ondine's curse. Am J Hum Genet 62:715-717
38. Sakai T, Wakizaka A, Matsuda H, Nirasawa Y, Itoh Y 1998 Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome. Pediatrics 101:924-926
39. Sakai T, Wakizaka A, Nirasawa Y 2001 Congenital central hypoventilation syndrome associated with Hirschsprung's disease: mutation analysis of the RET and endothelin-signaling pathways. Eur J Pediatr Surg 11:335-337
40. Kanai M, Numakura C, Sasaki A, Shirahata E, Akaba K, Hashimoto M, Hasegawa H, Shirasawa S, Hayasaka K 2002 Congenital central hypoventilation syndrome: a novel mutation of the RET gene in an isolated case. Tohoku J Exp Med 196:241-246
41. Fitze G, Paditz E, Schlafke M, Kuhlisch E, Roesner D, Schackert HK 2003 Association of germline mutations and polymorphisms of the RET proto-oncogene with idiopathic congenital central hypoventilation syndrome in 33 patients. J Med Genet 40:E10
42. 2 sensitivity. J Auton Nerv Syst 63:137-143
43. 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
44. Kuwaki T, Cao W, Kurihara Y, Kurihara H, Ling GY, Onodera M, Ju KH, Yazaki Y, Kumada M 1996 Impaired ventilatory responses to hypoxia and hypercapnia in mutant mice deficient in endothelin-1. Am J Physiol 270:RI279-R1286
45. 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
46. Amiel J, Pelet A, Trang H, de Pontual L, Simonneau M, Munnich A, Gaultier C, Lyonnet S 2003 Exclusion of RNX as a major gene in congenital central hypoventilation syndrome (CCHS, Ondine's curse). Am J Med Genet 117A:8-20
47. Matera I, Bachetti T, Cinti R, Lerone M, Gagliardi L, Morandi F, Motta M, Mosca F, Ottonello G, Piumelli R, Schober JG, Ravazzolo R, Ceccherini I 2002 Mutational analysis of the RNX gene in congenital central hypoventilation syndrome. Am J Med Genet 113:178-182
48. Simon HH, Saueressig H, Wurst W, Goulding MD, O'Leary DD 1994 Fate of midbrain dopaminergic neurons controlled by the engrailed genes. J Neurosci 21:3126-3134
49. Zec N, Rowitch DH, Bitgood MJ, Kinney HC 1997 Expression of the homeobox-containing genes EN1 and EN2 in human fetal midgestational medulla and cerebellum. J Neuropathol Exp Neurol 56:236-242