J Genet Med.
2014 Jun;11(1):11-15. 10.5734/JGM.2014.11.1.11.
Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome
- Affiliations
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- 1Department of Anatomy, Keimyung University School of Medicine, Daegu, Korea.
- 2Department of Medical Genetics, Keimyung University School of Medicine, Daegu, Korea. dkkimmd@kmu.ac.kr
- 3Institute for Medical Genetics, Keimyung University School of Medicine, Daegu, Korea.
- 4Hanvit Institute for Medical Genetics, City Women's Clinic, Daegu, Korea.
- KMID: 1737957
- DOI: http://doi.org/10.5734/JGM.2014.11.1.11
Abstract
- Congenital central hypoventilation syndrome (CCHS) is a disorder of the autonomic nervous system characterized by a decreased response to hypercarbia. CCHS is frequently associated with congenital megacolon; the combination is called Haddad syndrome. CCHS is associated with dysfunction in respiratory features of the autonomic nervous system and with other disorders, including facial deformities, cardiovascular symptoms, and tumors. Patients with CCHS frequently have a mutation in the homeobox protein 2b (PHOX2B) gene. Most mutations involve heterozygous expansion of alanine repeats (GCN). Interestingly, a higher polyalanine repeat number is associated with a more severe clinical phenotype. To clarify the role of PHOX2B in disease pathogenesis, we introduce and review the clinical and molecular features of CCHS and Haddad syndrome.
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