title: PHOX2B gene mutation in a patient with late-onset central hypoventilation.
abstract: Congenital central hypoventilation syndrome, which is related to abnormal autonomic control of breathing and typically manifests at birth, was recently associated with PHOX2B gene mutations. In contrast, central hypoventilation with later onset constitutes a poorly defined group of unknown etiology. Here, we report on the identification of a de novo heterozygous PHOX2B mutation in a patient with central hypoventilation manifesting in childhood. This finding suggests that some of these cases may be genetically determined and allelic to congenital central hypoventilation syndrome.
authors.affiliation: Service de Physiologie, INSERM E-9935, Hôpital Robert Debré, Université Paris 7, Paris, France. ha.trang@rdb.ap-hop-paris.fr
authors.forename: Ha
authors.initials: H
authors.lastname: Trang
authors.forename: Béatrice
authors.initials: B
authors.lastname: Laudier
authors.forename: Delphine
authors.initials: D
authors.lastname: Trochet
authors.forename: Arnold
authors.initials: A
authors.lastname: Munnich
authors.forename: Stanislas
authors.initials: S
authors.lastname: Lyonnet
authors.forename: Claude
authors.initials: C
authors.lastname: Gaultier
authors.forename: Jeanne
authors.initials: J
authors.lastname: Amiel
mesh_terms: D001483:Base Sequence; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D007223:Infant; D008297:Male; D009154:Mutation; D012689:Sequence Homology, Nucleic Acid; D020182:Sleep Apnea, Central / Q000235:genetics* / Q000473:pathology; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors