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References
These sources were used to develop the Genetics Home Reference
gene summary
on the
PHOX2B
gene.
Antic NA, Malow BA, Lange N, McEvoy RD, Olson AL, Turkington P, Windisch W, Samuels M, Stevens CA, Berry-Kravis EM, Weese-Mayer DE. PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood. Am J Respir Crit Care Med. 2006 Oct 15;174(8):923-7. Epub 2006 Jul 27.
PubMed citation
Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. Am J Respir Crit Care Med. 2006 Nov 15;174(10):1139-44. Epub 2006 Aug 3.
PubMed citation
Entrez
Gene
Gaultier C, Trang H, Dauger S, Gallego J. Pediatric disorders with autonomic dysfunction: what role for PHOX2B? Pediatr Res. 2005 Jul;58(1):1-6. Epub 2005 May 18. Review.
PubMed citation
Gene Review: Congenital Central Hypoventilation
Syndrome
Gronli JO, Santucci BA, Leurgans SE, Berry-Kravis EM, Weese-Mayer DE. Congenital central hypoventilation syndrome: PHOX2B genotype determines risk for sudden death. Pediatr Pulmonol. 2008 Jan;43(1):77-86.
PubMed citation
Miao X, Garcia-Barceló MM, So MT, Leon TY, Lau DK, Liu TT, Chan EK, Lan LC, Wong KK, Lui VC, Tam PK. Role of RET and PHOX2B gene polymorphisms in risk of Hirschsprung's disease in Chinese population. Gut. 2007 May;56(5):736.
PubMed citation
Parodi S, Bachetti T, Lantieri F, Di Duca M, Santamaria G, Ottonello G, Matera I, Ravazzolo R, Ceccherini I. Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome. Hum Mutat. 2008 Jan;29(1):206.
PubMed citation
Raabe EH, Laudenslager M, Winter C, Wasserman N, Cole K, LaQuaglia M, Maris DJ, Mosse YP, Maris JM. Prevalence and functional consequence of PHOX2B mutations in neuroblastoma. Oncogene. 2008 Jan 17;27(4):469-76. Epub 2007 Jul 16.
PubMed citation
Reiff T, Tsarovina K, Majdazari A, Schmidt M, del Pino I, Rohrer H. Neuroblastoma phox2b variants stimulate proliferation and dedifferentiation of immature sympathetic neurons. J Neurosci. 2010 Jan 20;30(3):905-15. doi: 10.1523/JNEUROSCI.5368-09.2010.
PubMed citation
Repetto GM, Corrales RJ, Abara SG, Zhou L, Berry-Kravis EM, Rand CM, Weese-Mayer DE. Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene. Acta Paediatr. 2009 Jan;98(1):192-5. doi: 10.1111/j.1651-2227.2008.01039.x. Epub 2008 Sep 16.
PubMed citation
Trochet D, Hong SJ, Lim JK, Brunet JF, Munnich A, Kim KS, Lyonnet S, Goridis C, Amiel J. Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction. Hum Mol Genet. 2005 Dec 1;14(23):3697-708. Epub 2005 Oct 25.
PubMed citation
Weese-Mayer DE, Berry-Kravis EM, Ceccherini I, Rand CM. Congenital central hypoventilation syndrome (CCHS) and sudden infant death syndrome (SIDS): kindred disorders of autonomic regulation. Respir Physiol Neurobiol. 2008 Dec 10;164(1-2):38-48. doi: 10.1016/j.resp.2008.05.011. Review.
PubMed citation
Weese-Mayer DE, Berry-Kravis EM, Marazita ML. In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respir Physiol Neurobiol. 2005 Nov 15;149(1-3):73-82. Epub 2005 Jul 28. Review.
PubMed citation
Reviewed: August 2012
Published: May 20, 2013
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