Expanding the Phenotype of Congenital Central Hypoventilation Syndrome Impacts Management Decisions

Overview

Journal Am J Med Genet A

Specialty Genetics

Date 2018 Apr 27

PMID 29696799

Citations 6

Authors

Heather M Byers

Maida Chen

Andrew S Gelfand

Bruce Ong

Marisa Jendras

Ian A Glass

Affiliations

Soon will be listed here.

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.

Citing Articles

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