Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2006 Oct 15;174(8):923-7.
doi: 10.1164/rccm.200605-607CR. Epub 2006 Jul 27.

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

Nick A Antic  1 , 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
Affiliations
Case Reports

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

Nick A Antic et al. Am J Respir Crit Care Med. .

Abstract

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.

PubMed Disclaimer

Publication types