title: A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
abstract: Congenital central hypoventilation syndrome (CCHS) is a rare disease characterized by abnormal autonomic control of breathing resulting in hypoventilation. We report an infant girl with CCHS who presented with central sleep apnea, which was first demonstrated by polysomnography when the infant was 5 months old. She was heterozygous for the novel 590delG mutation of PHOX2B, which is classified as a non-polyalanine repeat mutation (NPARM). This mutation is considered to be associated with a relatively mild phenotype.
  
  
  BACKGROUND
  Amimoto Y; Okada K; Nakano H; Sasaki A; Hayasaka K; Odajima H. A case of congenital central hypoventilation syndrome with a novel mutation of the PHOX2B gene presenting as central sleep apnea.
authors.affiliation: Department of Pediatrics, Fukuoka National Hospital, Fukuoka, Japan.
authors.forename: Yuko
authors.initials: Y
authors.lastname: Amimoto
authors.affiliation: Department of Pediatrics, Fukuoka National Hospital, Fukuoka, Japan.
authors.forename: Kenji
authors.initials: K
authors.lastname: Okada
authors.affiliation: Sleep Disorders Center, Fukuoka National Hospital, Fukuoka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Nakano
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Ayako
authors.initials: A
authors.lastname: Sasaki
authors.affiliation: Department of Pediatrics, Yamagata University School of Medicine, Yamagata, Japan.
authors.forename: Kiyoshi
authors.initials: K
authors.lastname: Hayasaka
authors.affiliation: Department of Pediatrics, Fukuoka National Hospital, Fukuoka, Japan.
authors.forename: Hiroshi
authors.initials: H
authors.lastname: Odajima
mesh_terms: D005260:Female; D016368:Frameshift Mutation / Q000235:genetics*; D006579:Heterozygote; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D007223:Infant; D017286:Polysomnography; D020182:Sleep Apnea, Central / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D012894:Sleep Stages / Q000502:physiology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors
keywords: Central sleep apnea; PHOX2B; congenital central hypoventilation syndrome (CCHS)