title: A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.
abstract: We report the case of a 15-month-old male suffering from Late Onset Congenital Central Hypoventilation Syndrome and recto-sigmoid Hirschsprung's disease, an association that has not been reported thus far. Nevertheless, our patient showed a missense mutation of the PHOX2B gene already known in isolated late onset central hypoventilation, resulting in a substitution of the Ala140 residue with a Glu residue (p.A140E). The present association of LO-CHS and HSCR in a patient harboring a rare and atypical PHOX2B mutation allows to refine the mutational spectrum of this disease and suggests individualized ventilatory care along with specific surgical and oncological approaches.
authors.affiliation: Laboratory of Molecular Genetics, G. Gaslini Institute, Genoa, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Parodi
authors.forename: Maria Pia
authors.initials: MP
authors.lastname: Baglietto
authors.forename: Alessio
authors.initials: A
authors.lastname: Pini Prato
authors.forename: Francesco
authors.initials: F
authors.lastname: Caroli
authors.forename: Alberto
authors.initials: A
authors.lastname: Garaventa
authors.forename: Isabella
authors.initials: I
authors.lastname: Ceccherini
authors.forename: Giancarlo
authors.initials: G
authors.lastname: Ottonello
mesh_terms: D000293:Adolescent; D017668:Age of Onset; D006627:Hirschsprung Disease / Q000235:genetics*; D018398:Homeodomain Proteins / Q000235:genetics*; D006801:Humans; D008297:Male; D020125:Mutation, Missense; D020182:Sleep Apnea, Central / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D018398:Homeodomain Proteins; C109220:NBPhox protein; D014157:Transcription Factors