Journal of Genetic Medicine

  • 제11권1호
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  • Pages.11-15
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  • 2014
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  • 1226-1769(pISSN)
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  • 2383-8442(eISSN)
대한의학유전학회 (Korean Society of Medical Genetics and Genomics)
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Molecular genetics of congenital central hypoventilation syndrome and Haddad syndrome

  • Lee, Jae-Ho (Department of Anatomy, Keimyung University School of Medicine) ;
  • Kim, Dae-Kwang (Department of Medical Genetics, Keimyung University School of Medicine)
  • 투고 : 2014.04.07
  • 심사 : 2014.06.30
  • 발행 : 2014.06.30
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초록

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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참고문헌

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