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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, Lyon-net S (2003) Polyalanine expansion and frame shift mutations of the paired-like homeobox gene PHOX2Bin congenital central hypoventilation syndrome (Ondine’s curse). Nat Genet 33: 440-442
Amiel J, Salomon R, Attie 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
Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE (2006) PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med 174: 923-927
Bachetti T, Robbiano A, Parodi S, Matera I, Merello E, Capra V, Baglietto MP, Rossi A, Ceccherini I, Ottonello G (2006) Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. Am J Respir Crit Care Med 174: 706-709
Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE (2006) Congenital central hypoventilation syndrome: PHOX-2B mutations and phenotype. Am J Respir Crit Care Med 174: 1139-1144
Croaker GD, Shi E, Simpson E, Cartmill T, Cass DT (1998) Congenital central hypoventilation syndrome and Hirschsprung’s disease. Arch Dis Child 78: 316-322
Cutz E, Ma TK, Perrin DG, Moore AM, Becker LE (1997) Peripheral chemoreceptors in congenital central hypoventilation syndrome. Am J Respir Crit Care Med 155: 358-363
De Pontual L, Nepote V, Attie-Bitach T, Al Halabiah H, Trang H, Elghouzzi V, Levacher B, Benihoud K, Auge J, Faure C, Laudier B, Vekemans M, Munnich A, Perricaudet M, Guillemot F, Gaultier C, Lyonnet S (2003) Noradrenergic neuronal development is impaired by mutation of proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine’s curse). Hum Mol Genet 12: 3173-3180
De Pontual L, Pelet A, Trochet D, Jaubert F, Espinosa-Parrilla Y, Munnich A, Brunet JF, Goridis C, Feingold J, Lyonnet S, Amiel J (2006) Mutations of the RET gene in isolated and syndromic Hirschsprung’s disease in human disclose major and modifier alleles at a single locus. J Med Genet 43: 419-423
Doherty LS, Kiely JL, Deegan PC, Nolan G, McCabe S, Green AJ, Ennis S, Mc Nicholas WT (2007) Late-onset central hypoventilation syndrome: a family genetic study. Eur Respir J 29: 312-316
Faure C, Viarme F, Cargill G, Navarro J, Gaultier C, Trang H (2002) Abnormal esophageal motility in children with congenital central hypoventilation syndrome. Gastroenterology 122: 1258-1263
Gozal D (1998) Congenital central hypoventilation syndrome: an update. Pediatr Pulmonol 26: 273-82
Gozal D, Marcus CL, Shoseyov D, Keens TG (1993) Peripheral chemoreceptor function in children with the congenital central hypoventilation syndrome. J Appl Physiol 74: 379-387Gozal D, Marcus CL, Ward SL, Keens TG (1996) Ventilatory responses to passive leg motion in children with congenital central hypoventilation syndrome. Am J Respir Crit Care Med 153: 761-768
Gozal D, Simakajornboon N (2000) Passive motion of the extremities modifies alveolar ventilation during sleep in patients with congenital central hypoventilation syndrome. Am J Respir Crit Care Med 162: 1747-1751
Haddad GG, Mazza NM, Defendini R, Blanc WA, Driscoll JM, Epstein MA, Epstein RA, Mellins RB (1978) Congenital failure of automatic control of ventilation, gastrointestinal motility and heart rate. Medicine 57: 517-526
Harper RM, Macey PM, Woo MA, Macey KE, Keens TG, Gozal D, Alger JR (2005) Hypercapnic exposure in congenital central hypoventilation syndrome reveals CNS respiratory control mechanisms. J Neurophysiol 93: 1647-1658
Khalifa MM, Flavin MA, Wherrett BA (1998) Congenital central hypoventilation syndrome in monozygotic twins. J Pediatr 113: 853-855
Kumar R, Macey PM, Woo MA, Alger JR, Harper RM (2006) Elevated mean diffusivity in widespread brain regions in congenital central hypoventilation syndrome. J Magn Reson Imaging 24: 1252-1258
Macey PM, Valderama C, Kim AH, Woo MA, Gozal D, Keens TG, Harper RK, Harper RM (2004) Temporal trends of cardiac and respiratory responses to ventilatory challenges in congenital central hypoventilation syndrome. Pediatr Res 55: 953-959
Macey PM, Woo MA, Macey KE, Keens TG, Saeed MM, Alger JR, Harper RM (2005) Hypoxia reveals posterior thalamic, cerebellar, midbrain, and limbic deficits in congenital central hypoventilation syndrome. J Appl Physiol 98: 958-969
Marcus CL, Bautista DB, Amihyia A, Ward SL, Keens TG (1991) Hypercapneic arousal responses in children with congenital central hypoventilation syndrome. Pediatrics 88: 993-998
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 severity of respiratory phenotype and associated symptoms in both congenital and late onset central hypoventilation syndrome. J Med Genet 41: 373-80
Mellins RB, Balfour HH, Turino GM, Winters RW (1970) Failure of automatic control of ventilation (Ondine’s curse). Report of an infant born with this syndrome and review of the literature. Medicine 49: 487-504
O’Brien LM, Holbrook CR, Vanderlaan M, Amiel J, Gozal D (2005) Autonomic function in children with congenital central hypoventilation syndrome and their families. Chest 128: 2478-2484
Paton JY, Swaminathan S, Sargent CW, Hawksworth A, Keens TG (1993) Ventilatory response to exercise in children with congenital central hypoventilation syndrome. Am Rev Respir Dis 147: 1185-1191
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
Spengler CM, Gozal D, Shea SA (2001) Chemoreceptive mechanisms elucidated by studies of congenital central hypoventilation syndrome. Respir Physiol 129: 247-255
Sritippayawan S, Hamutcu R, Kun SS, Ner Z, Ponce M, Keens TG (2002) Mother-daughter transmission of congenital central hypoventilation syndrome. Am J Respir Crit Care Med 166: 367-369
Trang H, Boureghda S, Denjoy I, Alia M, Kabaker M. (2003) 24-hour BP in children with congenital central hypoventilation syndrome. Chest 124: 1393-1399
Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C, the French CCHS Working Group (2005) The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest 127: 72-79
Trang H, Girard A, Laude D, Elghozi JL (2005) Short-term blood pressure and heart rate variability in congenital central hypoventilation syndrome (Ondine’s curse). Clin Sci (Lond) 108: 225-230
Trang H, Laudier B, Trochet D, Munnich A, Lyonnet S, Gaultier C, Amiel J (2004) PHOX2B gene mutation in a patient with late-onset central hypoventilation. Pediatr Pulmonol 38: 349-351
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 S, Amiel J (2005) PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome. Am J Hum Genet 76: 421-426
Vanderlaan M, Holbrook CR, Wang M, Tuell A, Gozal D (2004) Epidemiologic survey of 196 patients with congenital central hypoventilation syndrome. Pediatr Pulmonol 37: 217-229
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 PHOX-2B. Am J Med Genet 123: 3173-3180
Weese-Mayer DE, Bolk S, Silvestri JM, Chakravarti A (2002) Idiopathic congenital central hypoventilation syndrome: evaluation of brain-derived neurotrophic factor genomic DNA sequence variation. Am J Med Genet 107: 306-310
Weese-Mayer DE, Shannon DC, Keens TG, Silvestri JM, American Thoracic Society (1999) Idiopathic congenital central hypoventilation syndrome. Diagnosis and management. Am J Respir Crit Care Med 160: 368-373
Woo MA, Macey PM, Macey KE, Keens TG, Woo MS, Harper RK, Harper RM (2005) fMRI responses to hyperoxia in congenital central hypoventilation syndrome. Pediatr Res 57: 510-508
Woo MS, Woo MA, Gozal D, Jansen MT, Keens TG, Harper RM (1992) Heart rate variability in congenital central hypoventilation syndrome. Pediatr Res 31: 291-296
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Trang, H. (2008). Congenital central hypoventilation syndrome: from patients to gene discovery. In: Genetic Basis for Respiratory Control Disorders. Springer, Boston, MA. https://doi.org/10.1007/978-0-387-70765-5_4
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DOI: https://doi.org/10.1007/978-0-387-70765-5_4
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