References
Trang H, Dehan M, Beaufils F, Zaccaria I, Amiel J, Gaultier C (2005) The French Congenital Central Hypoventilation Syndrome Registry: general data, phenotype, and genotype. Chest 127:72–79
Trochet D, O’Brien LM, Gozal D, Trang H, Nordenskjöld 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
Berry-Kravis EM, Zhou L, Rand CM, Weese-Mayer DE (2006) Congenital central hypoventilation syndrome: pHOX2B mutations and phenotype. Am J Respir Crit Care Med 174:1139–1144
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
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
Hung CC, Su YN, Tsao PN, Chen PC, Lin SJ, Lin CH, Mu SC, Liu CA, Chang YC, Lin WL, Hsieh WS, Hsu SM (2007) Unequal crossover recombination-population screening for PHOX2B gene polyalanine polymorphism using CE. Electrophoresis 28:894–899
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, 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
Weese-Mayer DE, Berry-Kravis EM, Zhou L (2003) Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b. Am J Med Genet A 123:267–278
Chen ML, Keens TG (2004) Congenital central hypoventilation syndrome: not just another rare disorder. Paediatr Respir Rev 5:182–189
Trochet D, de Pontual L, Straus C, Gozal D, Trang H, Landrieu P, Munnich A, Lyonnet S, Gaultier C, Amiel J (2008) PHOX2B germline and somatic mutations in late-onset central hypoventilation syndrome. Am J Respir Crit Care Med 177:906–911
Hiren M, Raanan A (2008) Central alveolar hypoventilation syndromes. Sleep Med Clin 3(4):601–615
Author information
Authors and Affiliations
Corresponding author
Rights and permissions
About this article
Cite this article
Al Saadi, M.M. Congenital central hypoventilation syndrome due to PHOX2B mutation in a Saudi child: a case report. Sleep Breath 15, 875–878 (2011). https://doi.org/10.1007/s11325-010-0438-0
Received:
Revised:
Accepted:
Published:
Issue Date:
DOI: https://doi.org/10.1007/s11325-010-0438-0