Congenital central hypoventilation syndrome and the PHOX2B gene mutation

Neonatal Network

Volumn 30, Issue 6, 2011, Pages 397-401

  Marion, Tara L ^a   Bradshaw, Wanda T ^b  

^a WAKE FOREST BAPTIST HEALTH   (United States)

^b NONE

Author keywords

[No Author keywords available]

Indexed keywords

HOMEODOMAIN PROTEIN; NBPHOX PROTEIN; TRANSCRIPTION FACTOR;

CENTRAL SLEEP APNEA SYNDROME; CONGENITAL CENTRAL HYPOVENTILATION SYNDROME; DNA SEQUENCE; GENETIC SCREENING; GENETICS; HUMAN; HYPOVENTILATION; MUTATION; NEWBORN; PATHOPHYSIOLOGY; REVIEW;

GENETIC TESTING; HOMEODOMAIN PROTEINS; HUMANS; HYPOVENTILATION; INFANT, NEWBORN; MUTATION; SEQUENCE ANALYSIS, DNA; SLEEP APNEA, CENTRAL; TRANSCRIPTION FACTORS;

EID: 84861821347     PISSN: 07300832     EISSN: 15392880     Source Type: Journal    
DOI: 10.1891/0730-0832.30.6.397     Document Type: Article

References (11)

1. Weese-Mayer, D. E., Berry-Kravis, E. M., & Marazita, M. L. (2005). In pursuit (and discovery) of a genetic basis for congenital central hypoventilation syndrome. Respiratory Physiology & Neurobiology, 149(1-3), 73-82. http://dx.doi.org/10.1164/rccm.200807-1069ST
2. Chen, M. L., & Keens, T. G. (2004). Congenital central hypoventilation syndrome: Not just another rare disorder. Paediatric Respiratory Reviews, 5(3), 182-189.
3. Berry-Kravis, E. M., Zhou, L., Rand, C. M., & Weese-Mayer, D. E. (2006). Congenital central hypoventilation syndrome: PHOX2B mutations and phenotype. American Journal of Respiratory and Critical Care Medicine, 174(10), 1139-1144. http://dx.doi.org/10.1164/rccm.200602-305OC
4. Weese-Mayer, D. E., Shannon, D. C., Keens, T. G., & Silvestri, J. M. (1999). American Thoracic Society Statement. Idiopathic congenital central hypoventilation syndrome. Diagnosis and management. American Journal of Respiratory and Critical Care Medicine, 160(1), 368-373. pmid:10390427
5. Todd, E. S., Weinberg, S. M., Berry-Kravis, E. M., Silvestri, J. M., Kenny, A. S., Rand, C. M., . . . Weese-Mayer, D. E. (2006). Facial phenotype in children and young adults with PHOX2B-determined congenital central hypoventilation syndrome: Quantitative pattern of dysmorphology. Pediatric Research, 59(1), 39-45. http://dx.doi.org/10.1203/01.pdr.0000191814.73340.1d
6. Grigg-Damberger, M., & Wells, A. (2009). Central congenital hypoventilation syndrome: Changing face of a less mysterious but more complex genetic disorder. Seminars in Respiratory and Critical Care Medicine, 30(3), 262-274. http://dx.doi.org/10.1055/s-0029-1222440
7. Ou-Yang, M. C., Yang, S. N., Hsu, Y. M., Ou-Yang, M. H., Haung, H. C., Lee, S. Y., . . .Liu, C. A. (2007). Concomitant existence of total bowel aganglionosis and congenital central hypoventilation syndrome in a neonate with PHOX2B gene mutation. Journal of Pediatric Surgery, 42(2), e9-e11. http://dx.doi.org/10.1016/j.jpedsurg.2006.10.022
8. Lai, D., & Schroer, B. (2008). Haddad syndrome: A case of an infant with central congenital hypoventilation syndrome and Hirschsprung disease. Journal of Child Neurology, 23(3), 341-343. http://dx.doi.org/10.1177/ 0883073807309242
9. Bachetti, T., Robbiano, A., Parodi, S., Matera, I., Merello, E., Capra, V., . . . Ottonello, G. (2006). Brainstem anomalies in two patients affected by congenital central hypoventilation syndrome. American Journal of Respiratory and Critical Care Medicine, 174(6), 706-709. http://dx. doi.org/10.1164/rccm. 200602-266CR
10. Bajaj, R., Smith, J., Trochet, D., Pitkin, J., Ouvrier, R., Graf, N., . . . Kluckow, M. (2005). Congenital central hypoventilation syndrome and Hirschsprung's disease in an extremely preterm infant. Pediatrics. 115(6), e737-e738. http://dx.doi.org/10.1542/peds.2004-1910
11. Chen, M. L., Turkel, S. B., Jacobson, J. R., & Keens, T. G. (2006). Alcohol use in congenital central hypoventilation syndrome. Pediatric Pulmonology, 41(3), 283-285. http://dx.doi.org/10.1002/ppul.20366