Ontology highlight
ABSTRACT:
SUBMITTER: Byers HM
PROVIDER: S-EPMC5992090 | biostudies-literature | 2018 Jun
REPOSITORIES: biostudies-literature
American journal of medical genetics. Part A 20180425 6
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 ...[more]