title: A Case of "Abnormally Abnormal" Hypoxic Ventilatory Responses: A Novel NPARMPHOX 2BGene Mutation.
abstract: Congenital central hypoventilation syndrome (CCHS) is a rare disorder associated with dysregulation of the autonomic ventilatory response to hypoxia and hypercarbia usually caused by polyalanine repeat expansion mutations in thePHOX 2Bgene. Non-polyalanine repeat mutations (NPARM) represent approximately 10% of cases, and usually require continuous ventilation during sleep, although our knowledge of disease progression is limited. Here we present a case with a novel NPARM CCHS mutation associated with a premature stop codon for the PHOX 2B protein. Despite the type of the mutation, patient management with supplementary oxygen has been sufficient. Experience from our case may help when counseling parents.
authors.affiliation: Department of Respiratory and Sleep Medicine, Royal Hospital for Sick Children Edinburgh, Edinburgh, United Kingdom.|University of Edinburgh, Department of Child Life and Health, Edinburgh, United Kingdom.
authors.forename: Stefan A
authors.initials: SA
authors.lastname: Unger
authors.affiliation: Department of Respiratory and Sleep Medicine, Royal Hospital for Sick Children Edinburgh, Edinburgh, United Kingdom.
authors.forename: Maude
authors.initials: M
authors.lastname: Guillot
authors.affiliation: Department of Respiratory and Sleep Medicine, Royal Hospital for Sick Children Edinburgh, Edinburgh, United Kingdom.|University of Edinburgh, Department of Child Life and Health, Edinburgh, United Kingdom.
authors.forename: Donald S
authors.initials: DS
authors.lastname: Urquhart
mesh_terms: D018398:Homeodomain Proteins / Q000235:genetics* / Q000502:physiology; D006801:Humans; D007040:Hypoventilation / Q000151:congenital* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics; D017286:Polysomnography; D020182:Sleep Apnea, Central / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics* / Q000502:physiology
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors
keywords: central apnea; congenital central hypoventilation syndrome; genetics; genome-wide association studies; oxygenation and therapy; sleep medicine