Genes and genetics in respiratory control

Paediatric Respiratory Reviews

Volumn 5, Issue 3, 2004, Pages 166-172

  Gaultier, Claude ^a  

^a INSERM   (France)

Author keywords

Congenital central hypoventilation syndrome; Developmental disorders; Genetic factors; Ondine's curse; Respiratory control; Sleep disordered breathing

Indexed keywords

BRAIN DERIVED NEUROTROPHIC FACTOR; ENDOTHELIN CONVERTING ENZYME; GLIAL CELL LINE DERIVED NEUROTROPHIC FACTOR; HOMEODOMAIN PROTEIN; I KAPPA B KINASE; METHYL CPG BINDING PROTEIN 2; SMALL NUCLEAR RIBONUCLEOPROTEIN;

ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; CLINICAL PRACTICE; DEVELOPMENTAL DISORDER; DEVELOPMENTAL GENETICS; DYSAUTONOMIA; EPIDEMIOLOGICAL DATA; GENE MUTATION; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENETIC VARIABILITY; HUMAN; HYPOVENTILATION; LUNG DYSPLASIA; LUNG FUNCTION TEST; MEDICAL RESEARCH; MOUSE; NONHUMAN; PATHOGENESIS; PHENOTYPE; PRADER WILLI SYNDROME; PREMATURITY; PRIORITY JOURNAL; RESPIRATION CONTROL; RETT SYNDROME; SLEEP APNEA SYNDROME; SUDDEN INFANT DEATH SYNDROME;

ANIMALS; HUMANS; RESPIRATION; RESPIRATORY TRACT DISEASES;

EID: 3543055762     PISSN: 15260542     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.prrv.2004.04.012     Document Type: Article

References (57)

1. Amiel J. Laudier B. Attie-Bitach T. et al. Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome Nat Genet 33 2003 1-3
2. Kawakami Y.T. Yamamoto T. Yoshikawa T. Shida A. Chemical and behavioural control of breathing in adult twins Am Rev Respir Dis 129 1984 703-707
3. Shea S.A. Benchetrit G. Dinh P. Hamilton R.D. Guz A. The breathing patterns of identical twins Respir Physiol 75 1989 211-224
4. Hirschman C.A. McCullough R. Weil J. Normal values for hypoxic and hypercapnic ventilatory drives in man J Appl Physiol 38 1975 1095-1098
5. Collins D.D. Scoggin C.H. Zwillich C.W. Weil J.V. Hereditary aspects of decreased hypoxic response J Clin Invest 70 1976 105-110
6. Kobayashi S. Nishimura M. Yamamoto M. Akiyama Y. Kishi F. Kawakami Y. Dyspnea sensation and chemical control of breathing in adult twins Am Rev Respir Dis 147 1993 1192-1198
7. Arkinstall W.W. Nirmel K. Klissouras V. Milic-Emili J. Genetic differences in the ventilatory response to inhaled CO2 J Appl Physiol 36 1974 6-11
8. Thomas D.A. Swaminathan S. Beardsmore C.S. et al. Comparison of peripheral chemoreceptor responses in monozygotic and dizygotic twin infants Am Rev Respir Dis 148 1993 1605-1609
9. Fleetham J.A. Arnup M.E. Anthonisen N.R. Familial aspects of ventilatory control in patients with chronic obstructive pulmonary disease Am Rev Respir Dis 129 1984 3-7
10. Kawakami Y. Irie T. Shida A. Yoshikawa T. Familial factors affecting arterial blood gas values and respiratory chemosensitivity in chronic obstructive pulmonary disease Am Rev Respir Dis 125 1982 420-425
11. Redline S. Leitner J. Arnold J. Tishler P.V. Altose M.D. Ventilatory-control abnormalities in familial sleep apnea Am J Respir Crit Care Med 156 1997 155-160
12. Bouferrache B. Filtchev S. Leke A. Marbaix-Li Q. Freville M. Gaultier C. The hyperoxic test in infants reinvestigated Am J Respir Crit Care Med 161 2000 160-165
13. Praud J.P. Egreteau L. Benlabed M. Curzi-Dascalova L. Nedelcoux H. Gaultier C. Abdominal muscle activity during CO2 rebreathing in sleeping neonates J Appl Physiol 70 1991 1344-1350
14. Chardon K. Telliez F. Bach V. et al. Effects of warm and cold thermal conditions on ventilatory responses to hyperoxic test in neonates Respir Physiol Neurobiol 140 2004 145-153
15. Gozal D. Congenital central hypoventilation syndrome: An update Pediatr Pulmonol 26 1998 273-282
16. Nixon G.M. Brouillette R.T. Sleep and breathing in Prader-Willi syndrome Pediatr Pulmonol 34 2002 209-217
17. Marcus C.L. Sleep-disordered breathing in children Am J Respir Crit Care Med 164 2001 16-30
18. Trang H. Dehan M. Beaufils F. Legendre I. Amiel J. Gaultier C. and the French CCHS working group. The French congenital central hypoventilation registry: general data, phenotype and genotype. Chest 2004 (in press)
19. Pattyn A. Goridis C. Brunet J.F. Specification of the central noradrenergic phenotype by the homeobox gene Phox2b Mol Cell Neurosci 15 2000 235-243
20. Sasaki A. Kanai M. Kijima K. et al. Molecular analysis of congenital central hypoventilation syndrome Hum Genet 114 2003 22-26
21. Weese-Mayer D.E. Berry-Kravis E.M. Zhou L. et al. Idiopathic congenital central hypoventilation syndrome: Analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations PHOX2b Am J Med Genet 123A 2003 267-278
22. Matera I. Bachetti T. Puppo F. et al. 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 2004 373-380
23. Bolk S. Angrist M. Xie J. Endothelin-3 frameshift mutation in congenital central hypoventilation syndrome Nat Genet 13 1996 395-396
24. Amiel J. Salomon R. Attie T. et al. Mutations of the RET-GDNF signaling pathway in Ondine's curse Am J Hum Genet 62 1998 715-717
25. Sakai T. Wakizaka A. Matsuda H. Nirasawa Y. Itoh Y. Point mutation in exon 12 of the receptor tyrosine kinase proto-oncogene RET in Ondine-Hirschsprung syndrome Pediatrics 101 1998 924-926
26. Kanai M. Numakura C. Sasaki A. et al. Congenital central hypoventilation syndrome: A novel mutation of the RET gene in an isolated case Tohoku J Exp Med 196 2002 241-246
27. De Pontual L. Nepote V. Attie-Bitach T. et al. Noradrenergic neuronal development is impaired by mutation of proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse) Hum Mol Genet 12 2003 3173-3180
28. Weese-Mayer D.E. Bolk S. Silvestri J.M. Chakravarti A. Idiopathic congenital central hypoventilation syndrome: Evaluation of brain-derived neurotrophic factor genomic/DNA sequence variation Am J Med Genet 107 2002 306-310
29. Trang H, Laudier B, Trochet D et al. PHOX2B gene mutation in a patient with late-onset hypoventilation. Pediatr Pulmonol 2004 (in press)
30. Katz E.S. McGrath S. Marcus C.L. Late-onset hypoventilation with hypothalamic dysfunction: A distinct clinical syndrome Pediatr Pulmonol 29 2000 62-68
31. Arens R. Gozal D. Omlin K.J. et al. Hypoxic and hypercapnic ventilatory response in Prader-Willi syndrome J Appl Physiol 77 1994 2224-2230
32. Gozal D. Arens R. Omlin K.J. Davidson Ward S.L. Keens T.G. Absent peripheral chemosensitivity in Prader-Willi syndrome J Appl Physiol 77 1994 2231-2236
33. Ren J. Lee S. Pagliardini S. et al. Absence of Ndn, encoding the Prader-Willi syndrome-deleted gene necdin, results in congenital deficiency of central respiratory drive in neonatal mice J Neurosci 23 2003 1569-1573
34. Palmer L.J. Redline S. Genomic approaches to understanding obstructive sleep apnea Respir Physiol Neurobiol 135 2003 187-205
35. Kinney H.C. Filiano J.J. White W.E. Medullary serotoninergic network deficiency in the sudden infant death syndrome: Review of 15-year study of a single dataset J Neuropathol Exp Neurol 60 2001 228-247
36. Weese-Mayer D.E. Berry-Kravis E.M. Maher B.S. Silvestri J.M. Curran M.E. Marazita M.L. Sudden infant death syndrome: Association with a promoter polymorphism of the serotonin transporter gene Am J Med Genet 117A 2003 268-274
37. Weese-Mayer D.E. Silvestri J.M. Marazita M.L. Hoo J.J. Congenital central hypoventilation syndrome: Inheritance and relation to sudden infant death syndrome Am J Med Genet 47 1993 360-367
38. Pattyn A. Vallstede A. Dias J.M. et al. Coordinated temporal and spatial control of motor neuron and serotonergic neuron generation from a common pool Genes Dev 17 2003 727-729
39. Gerhardt T. Bancalari E. Ventilatory responses to CO2 in premature infants with apnea Pediatr Res 13 1979 534-539
40. Thoby-Brisson M. Cauli B. Champagnay J. Fortin G. Katz D.M. Expression of functional tyrosine kinase B receptors by rhythmically active respiratory neurons in the pre-Bötzinger complex of neonatal mice J Neurosci 23 2003 7685-7689
41. Jellinger K.A. Rett syndrome: An update J Neural Transm 110 2003 681-701
42. Bernardi L. Hilz M. Stemper B. Passino C. Welsch G. Axelrod F.B. Respiratory and cerebrovascular responses to hypoxia and hypercapnia in familial dysautonomia Am J Respir Crit Care Med 167 2003 141-149
43. Renolleau S. Dauger S. Autret F. Vardon G. Gaultier C. Gallego J. Maturation of baseline breathing and of hypercapnic and hypoxic ventilatory responses in newborn mice Am J Regulat Integrat Comp Physiol 281 2001 R1746-R1753
44. 2 sensitivity J Auton Nerv Syst 63 1997 137-143
45. Dauger S. Pattyn A. Lofaso F. et al. Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways Development 130 2003 6635-6642
46. Feldman J.L. Mitchell G.S. Nattie E.E. Breathing: Rhythmicity, plasticity, chemosensitivity Annu Rev Neurosci 26 2003 239-266
47. Blanchi B. Kelly L.M. Viemari J.C. et al. MafB deficiency causes defective respiratory rhythmogenesis and fatal central apnea at birth Nat Neurosci 6 2003 1091-1099
48. Erickson J.T. Conover J.C. Borday V. et al. Mice lacking brain-derived neurotrophic factor exhibit visceral sensory neuron losses distinct from mice lacking NT4 and display a severe developmental deficit in control of breathing J Neurosci 16 1996 5361-5371
49. Erickson J.T. Brosenitsch T.A. Katz D.M. Brain-derived neurotrophic factor and glial cell line-derived neurotrophic factor are required simultaneously for survival of dopaminergic primary sensory neurons in vivo J Neurosci 15 2001 581-589
50. Dauger S. Guimiot F. Renolleau S. et al. Mash-1/Ret pathway involvement in development of brain stem control of respiratory frequency in newborn mice Physiol Genomics 7 2001 149-157
51. Shirasawa S. Arata A. Onimaru H. et al. Rnx deficciency results in congenital hypoventilation Nat Genet 24 2000 287-290
52. Viemari J.C. Bevengut M. Burnet H. et al. Phox2a gene, A6 neurons, and noradrenaline are essential for development of normal respiratory rhythm in mice J Neurosci 24 2004 928-937
53. Renolleau S. Dauger S. Vardon G. et al. Impaired ventilatory responses to hypoxia in mice deficient in endothelin-converting-enzyme-1 Pediatr Res 49 2001 705-712
54. Kuwaki T. Ling G.Y. Onodera M. et al. Endothelin in the central control of cardiovascular and respiratory functions Clin Exp Pharmacol Physiol 26 1999 989-994
55. Nsegbe E, Wallen-Mackensie A, Dauger S et al. Congenital hypoventilation hypoxic response in Nurr1 mutant mice. J Physiol 2004 (in press)
56. Aisenfisz S. Dauger S. Durand E. et al. Ventilatory responses to hypercapnia and hypoxia in heterozygous c-ret +/- newborn mice Respir Physiol 131 2002 213-222
57. Dauger S. Renolleau S. Nepote V. et al. Ventilatory responses to hypercapnia and to hypoxia in Mash-1 heterozygous newborn and adult mice Pediatr Res 46 1999 535-542