ArticleAmerican journal of medical genetics. Part A2018
Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.
Article in American journal of medical genetics. Part A, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.
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Who cites it
7 citing papers in PubMed, 15 citations in OpenAlex.
- Images: Atypical presentation of congenital central hypoventilation syndrome in an infant with central and obstructive sleep apnea.Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine · 2024Article
- Congenital central hypoventilation syndrome in Chinese population: Analysis of three new cases and review of the literature.Molecular genetics & genomic medicine · 2023Review
- Case Report: A novelFrontiers in pediatrics · 2022Article
- Paired-like homeobox gene (PHOX2B) nonpolyalanine repeat expansion mutations (NPARMs): genotype-phenotype correlation in congenital central hypoventilation syndrome (CCHS).Genetics in medicine : official journal of the American College of Medical Genetics · 2021Article
- Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.Translational pediatrics · 2021Article
- Recurrent apnea in an infant: Lessons for the clinician.Medical journal, Armed Forces India · 2020Article
- Guidelines for diagnosis and management of congenital central hypoventilation syndrome.Orphanet journal of rare diseases · 2020Review
Corrections and comments
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Authors and funding
6 authors at 5 institutions in 1 country.
Funding
Abstract
Congenital central hypoventilation syndrome (CCHS) is a neurocristopathy caused by pathogenic heterozygous variants in the gene paired-like homeobox 2b (PHOX2B). It is characterized by severe infantile alveolar hypoventilation. Individuals may also have diffuse autonomic nervous system dysfunction, Hirschsprung disease and neural crest tumors. We report three individuals with CCHS due to an 8-base pair duplication in PHOX2B; c.691_698dupGGCCCGGG (p.Gly234Alafs*78) with a predominant enteral and neural crest phenotype and a relatively mild respiratory phenotype. The attenuated respiratory phenotype reported here and elsewhere suggests an emergent genotype:phenotype correlation which challenges the current paradigm of invoking mechanical ventilation for all infants diagnosed with CCHS. Best treatment requires careful clinical judgment and ideally the assistance of a care team with expertise in CCHS.
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Registered trials
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