title: PHOX2B mutation-confirmed congenital central hypoventilation syndrome: presentation in adulthood.
abstract: Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.
authors.affiliation: Adelaide Institute for Sleep Health, Repatriation General Hospital, Daw Park, South Australia, Australia, and Sleep Disorders Division, Department of Neurology, Vanderbilt University Medical Center, Nashville, TN, USA.
authors.forename: Nick A
authors.initials: NA
authors.lastname: Antic
authors.forename: Beth A
authors.initials: BA
authors.lastname: Malow
authors.forename: Neale
authors.initials: N
authors.lastname: Lange
authors.forename: R Doug
authors.initials: RD
authors.lastname: McEvoy
authors.forename: Amy L
authors.initials: AL
authors.lastname: Olson
authors.forename: Peter
authors.initials: P
authors.lastname: Turkington
authors.forename: Wolfram
authors.initials: W
authors.lastname: Windisch
authors.forename: Martin
authors.initials: M
authors.lastname: Samuels
authors.forename: Cathy A
authors.initials: CA
authors.lastname: Stevens
authors.forename: Elizabeth M
authors.initials: EM
authors.lastname: Berry-Kravis
authors.forename: Debra E
authors.initials: DE
authors.lastname: Weese-Mayer
mesh_terms: D000328:Adult; D004247:DNA / Q000235:genetics*; D018450:Disease Progression; D005260:Female; D005838:Genotype; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D009154:Mutation; D016133:Polymerase Chain Reaction; D011379:Prognosis; D020182:Sleep Apnea, Central / Q000151:congenital* / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors; D004247:DNA