title: Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.
abstract: Congenital central hypoventilation syndrome most commonly presents in neonates with sleep related hypoventilation; late onset cases have occurred up to the age of 10 years. It is associated with mutations in the PHOX2B gene, encoding a transcription factor involved in autonomic nervous system development. The case history is described of an adult who presented with chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation and an impaired response to hypercapnia.
authors.affiliation: Department of Respiratory Medicine, Bristol Royal Infirmary, Bristol BS2 8HW, UK.
authors.forename: S
authors.initials: S
authors.lastname: Barratt
authors.forename: A H
authors.initials: AH
authors.lastname: Kendrick
authors.forename: F
authors.initials: F
authors.lastname: Buchanan
authors.forename: A T
authors.initials: AT
authors.lastname: Whittle
mesh_terms: D000328:Adult; D045422:Continuous Positive Airway Pressure; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D006935:Hypercapnia / Q000209:etiology / Q000628:therapy; D007040:Hypoventilation / Q000235:genetics* / Q000628:therapy; D008297:Male; D009154:Mutation / Q000235:genetics*; D010100:Oxygen / Q000097:blood / Q000627:therapeutic use; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors; D010100:Oxygen