Delineation of late onset hypoventilation associated with hypothalamic dysfunction syndrome

Pediatric Research

Volumn 64, Issue 6, 2008, Pages 689-694

  De Pontual, Loic ^a,b   Trochet, Delphine ^a   Caillat Zucman, Sophie ^a   Abou Shenab, Othman A ^c   Bougneres, Pierre ^d   Crow, Yanick ^e   Cunningham, Steve ^f   Esteva, Blandine ^g   Heberle, Lada Cindro ^h   Leger, Juliane ⁱ   Pinto, Graziella ^a   Polak, Michel ^a   Shafik, Magdy Helmy ^c   Straus, Christian ^k,l   Trang, Ha ^j   Munnich, Arnold ^a   Lyonnet, Stanislas ^a   Desguerre, Isabelle ^a   Amiel, Jeanne ^a  

^a HÔPITAL NECKER ENFANTS MALADES   (France)

^b HÔPITAL JEAN VERDIER   (France)

^c FARWANIYA HOSPITAL   (Kuwait)

^d HÔPITAL SAINT VINCENT DE PAUL   (France)

^e ST JAMES S UNIVERSITY HOSPITAL   (United Kingdom)

^f ROYAL HOSPITAL FOR SICK CHILDREN   (United Kingdom)

^g ARMAND TROUSSEAU HOSPITAL   (France)

^h AL SABAH HOSPITAL   (Kuwait)

ⁱ Service de Physiologie   (France)

^j HÔPITAL ROBERT DEBRÉ   (France)

^k SORBONNE UNIVERSITÉ   (France)

^l ASSISTANCE PUBLIQUE HÔPITAUX DE PARIS   (France)

more..

Author keywords

[No Author keywords available]

Indexed keywords

NECDIN; TRANSCRIPTION FACTOR MASH1;

ADRENERGIC SYSTEM; ARTICLE; CANCER SUSCEPTIBILITY; CLINICAL ARTICLE; DISEASE ASSOCIATION; DYSAUTONOMIA; FEMALE; GENE; GENE SEQUENCE; HUMAN; HYPOTHALAMUS DISEASE; HYPOVENTILATION; LUNG VENTILATION; MALE; MONOGENIC DISORDER; NERVE CELL DIFFERENTIATION; OBESITY; OUTCOME ASSESSMENT; PHOX2B GENE; PRIORITY JOURNAL; RECURRENT DISEASE;

AGE OF ONSET; ANIMALS; BASIC HELIX-LOOP-HELIX TRANSCRIPTION FACTORS; CHILD; CHILD, PRESCHOOL; FEMALE; HOMEODOMAIN PROTEINS; HUMANS; HYPOTHALAMIC DISEASES; HYPOVENTILATION; INFANT; MALE; NERVE TISSUE PROTEINS; NUCLEAR PROTEINS; TRANSCRIPTION FACTORS;

EID: 57849103487     PISSN: 00313998     EISSN: None     Source Type: Journal    
DOI: 10.1203/PDR.0b013e318187dd0e     Document Type: Article

References (23)

1. Gozal D 1998 Congenital central hypoventilation syndrome: an update. Pediatr Pulmonol 26:273-282
2. Berger AJ, Mitchell RA, Severinghaus JW 1977 Regulation of respiration (first of three parts). N Engl J Med 297:92-97
3. Mellins RB, Balfour HH Jr, Turino GM, Winters RW 1970 Failure of autonomic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature. Medicine (Baltimore) 49:487-504
4. 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, 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
5. Trochet D, Bourdeaut F, Janoueix-Lerosey I, Deville A, de Pontual L, Schleiermacher G, Coze C, Philip N, Frebourg T, Munnich A, Lyonnet S, Delattre O, Amiel J 2004 Germline mutations of the paired-like homeobox 2B (PHOX2B) gene in neuroblastoma. Am J Hum Genet 74:761-764
6. 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
7. Weese-Mayer DE, Berry-Kravis EM, Zhou L 2005 Adult identified with congenital central hypoventilation syndrome-mutation in PHOX2b gene and late-onset CHS. Am J Respir Crit Care Med 171:88
8. Katz ES, McGrath S, Marcus CL 2000 Late-onset central hypoventilation with hypothalamic dysfunction: a distinct clinical syndrome. Pediatr Pulmonol 29:62-68
9. 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, Simonneau M, Amiel J 2003 Noradrenergic neuronal development is impaired by mutation of the proneural HASH-1 gene in congenital central hypoventilation syndrome (Ondine's curse). Hum Mol Genet 12:3173-3180
10. Trochet D, O'Brien LM, Gozal D, Trang H, Nordenskjold A, Laudier B, Svensson PJ, Uhrig S, Cole T, 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
11. Hayek A, Peake GT 1982 Hypothalamic adipsia without demonstrable structural lesion. Pediatrics 70:275-278
12. Traggiai C, Stanhope R 2004 Body mass index and hypothalamic morphology on MRI in children with congenital midline cerebral abnormalities. J Pediatr Endocrinol Metab 17:219-221
13. Gruters A, Krude H, Biebermann H 2004 Molecular genetic defects in congenital hypothyroidism. Eur J Endocrinol 151:U39-U44
14. 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
15. Ize-Ludlow D, Gray JA, Sperling MA, Berry-Kravis EM, Milunsky JM, Farooqi IS, Rand CM, Weese-Mayer DE 2007 Rapid-onset obesity with hypothalamic dysfunction, hypoventilation, and autonomic deregulation presenting in childhood. Pediatrics 120:e179-e188
16. North KN, Ouvrier RA, McLean CA, Hopkins IJ 1994 Idiopathic hypothalamic dysfunction with dilated unresponsive pupils: report of two cases. J Child Neurol 9:320-325
17. Ouvrier R, Nunn K, Sprague T, McLean C, Arbuckle S, Hopkins I, North K 1995 Idiopathic hypothalamic dysfunction: a paraneoplastic syndrome? Lancet 346:1298
18. Matthay KK, Blaes F, Hero B, Plantaz D, De Alarcon P, Mitchell WG, Pike M, Pistoia V 2005 Opsoclonus myoclonus syndrome in neuroblastoma a report from a workshop on the dancing eyes syndrome at the advances in neuroblastoma meeting in Genoa, Italy, 2004. Cancer Lett 228:275-282
19. Peyron C, Faraco J, Rogers W, Ripley B, Overeem S, Charnay Y, Nevsimalova S, Aldrich M, Reynolds D, Albin R, Li R, Hungs M, Pedrazzoli M, Padigaru M, Kucherlapati M, Fan J, Maki R, Lammers GJ, Bouras C, Kucherlapati R, Nishino S, Mignot E 2000 A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med 6:991-997
20. Mignot E, Lin L, Rogers W, Honda Y, Qiu X, Lin X, Okun M, Hohjoh H, Miki T, Hsu S, Leffell M, Grumet F, Fernandez-Vina M, Honda M, Risch N 2001 Complex HLA-DR and -DQ interactions confer risk of narcolepsy-cataplexy in three ethnic groups. Am J Hum Genet 68:686-699
21. Pagliardini S, Ren J, Wevrick R, Greer JJ 2005 Developmental abnormalities of neuronal structure and function in prenatal mice lacking the prader-willi syndrome gene necdin. Am J Pathol 167:175-191
22. Muscatelli F, Abrous DN, Massacrier A, Boccaccio I, Le Moal M, Cau P, Cremer H 2000 Disruption of the mouse Necdin gene results in hypothalamic and behavioral alterations reminiscent of the human Prader-Willi syndrome. Hum Mol Genet 9:3101-3110
23. McNay DE, Pelling M, Claxton S, Guillemot F, Ang SL 2006 Mash1 is required for generic and subtype differentiation of hypothalamic neuroendocrine cells. Mol Endocrinol 20:1623-1632