Pathology
germline mutations in congenital central hypoventilation syndrome (polyalanine expansion and frameshift mutations)(MIM.209880) with or without neuroblastoma (15657873)
germline mutations in short-segment Hirschsprung disease
germline mutations in familial neuroblastoma
See also
polyalanine repeat expansions
Hirschsprung disease genes
| RET | GDNF | NRTN | SOX10 | EDNRB | EDN3 | ECE1 | ZFHX1B | PHOX2B | TCF4 |
References
Trochet D, de Pontual L, Estêvao MH, Mathieu Y, Munnich A, Feingold J, Goridis C, Lyonnet S, Amiel J. Homozygous mutation of the PHOX2B gene in congenital central hypoventilation syndrome (Ondine’s Curse). Hum Mutat. 2008 May;29(5):770. PMID: 18407552
Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J. PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. Am J Respir Crit Care Med. 2008 Apr 15;177(8):906-11. PMID: 18079495
de Pontual L, Trochet D, Bourdeaut F, Thomas S, Etchevers H, Chompret A, Minard V, Valteau D, Brugieres L, Munnich A, Delattre O, Lyonnet S, Janoueix-Lerosey I, Amiel J. Methylation-associated PHOX2B gene silencing is a rare event in human neuroblastoma. Eur J Cancer. 2007 Nov;43(16):2366-72. PMID: 17765533
Amiel, J.; Laudier, B.; Attie-Bitach, T.; Trang, H.; de Pontual, L.; Gener, B.; Trochet, D.; Etchevers, H.; Ray, P.; Simmoneau, M.; Vekemans, M.; Munnich, A.; Gaultier, C.; Lyonnet, S. : Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome. Nature Genet. 33: 459-460, 2003. PubMed ID : 12640453