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Article

Variable phenotypes in congenital central hypoventilation syndrome with PHOX2B nonpolyalanine repeat mutations.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 1 Oct 2021

Kasi Ajay S, Li Hong, Jurgensen Taryn J, Guglani Lokesh, Keens Thomas G, Perez Iris A

Abstract excerpt

STUDY OBJECTIVES: Congenital central hypoventilation syndrome (CCHS) is a rare disorder affecting the autonomic nervous system that is caused by variants in the paired-like homeobox 2B (PHOX2B) gene. About 10% of patients with CCHS have nonpolyalanine repeat mutations (NPARM) that are associated with severe phenotypes requiring continuous assisted ventilation, Hirschsprung's disease, and increased neural crest...

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Identifiers

PMID: 33983112
DOI: 10.5664/jcsm.9370
PMCID: PMC8494081

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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