PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood

Nick A. Antic, Beth A. Malow, Neale Lange, R. Doug McEvoy, Amy L. Olson, Peter Turkington, Wolfram Windisch, Martin Samuels, Cathy A. Stevens, Elizabeth M. Berry-Kravis, Debra E. Weese-Mayer*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

99 Scopus citations


Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.

Original languageEnglish (US)
Pages (from-to)923-927
Number of pages5
JournalAmerican journal of respiratory and critical care medicine
Issue number8
StatePublished - Oct 15 2006


  • Congenital central hypoventilation syndrome
  • PHOX2B gene

ASJC Scopus subject areas

  • Pulmonary and Respiratory Medicine
  • Critical Care and Intensive Care Medicine


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