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Article

Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.

Journal of clinical sleep medicine : JCSM : official publication of the American Academy of Sleep Medicine - 15 Jul 2017

Kasi Ajay S, Jurgensen Taryn J, Yen Stephanie, Kun Sheila S, Keens Thomas G, Perez Iris A

Abstract excerpt

ABSTRACT: PHOX2B non-polyalanine repeat mutation (NPARM) in patients with congenital central hypoventilation syndrome (CCHS) is generally considered to be associated with full-time ventilator dependence and severe autonomic nervous system dysfunction. We report a three-generation family with four individuals possessing a novel PHOX2B NPARM (c.245C > T) with variable phenotypes. This mutation was inherited in an...

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Identifiers

PMID: 28633714
DOI: 10.5664/jcsm.6670
PMCID: PMC5482585

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