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Article

Congenital central hypoventilation syndrome without hypoventilation: is it congenital central hypoventilation syndrome?

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 1 Jun 2023

Wo Laura Lazzarini, Itani Reem, Keens Thomas G, Marachelian Araz, Ji Jianling, Perez Iris A

Abstract excerpt

Congenital central hypoventilation syndrome (CCHS) is a rare condition caused by pathogenic variants of the PHOX2B gene. There have been case reports describing variable phenotypes and mutations of the PHOX2B gene, not commonly tested for, that may challenge the classic definition of CCHS. We report on 3 family members with a rare heterozygous deletion encompassing the entire PHOX2B gene with variable phenotypes,...

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Homeodomain Proteins
Hypoventilation
Mutation
Sleep Apnea, Central
Transcription Factors

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36798979
DOI: 10.5664/jcsm.10512
PMCID: PMC10235709

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