PHOX2B
MIM.603851 Locus: 4p12
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
- PHOX2B-associated neuroblastoma
PHOX2B has been identified as a sensitive and specific minimal residual disease (MRD) marker; however, its expression varies between tumors. (#19460840#)
See also
polyalanine repeat expansions
Hirschsprung disease genes
| RET | GDNF | NRTN | SOX10 | EDNRB | EDN3 | ECE1 | ZFHX1B | PHOX2B | TCF4 |
References
Detecting minimal residual disease in neuroblastoma: the superiority of a panel of real-time quantitative PCR markers. Stutterheim J, Gerritsen A, Zappeij-Kannegieter L, Yalcin B, Dee R, van Noesel MM, Berthold F, Versteeg R, Caron HN, van der Schoot CE, Tytgat GA. Clin Chem. 2009 Jul;55(7):1316-26. PMID: #19460840#
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#