A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome

Sara Parodi, Maria Pia Baglietto, Alessio Pini Prato, Francesco Caroli, Alberto Garaventa, Isabella Ceccherini, Giancarlo Ottonello

Research output: Contribution to journalArticlepeer-review

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 spectrumof this disease and suggests individualized ventilatory care along with specific surgical and oncological approaches.

Original languageEnglish
Pages (from-to)1036-1039
Number of pages4
JournalPediatric Pulmonology
Volume43
Issue number10
DOIs
Publication statusPublished - Oct 2008

Keywords

  • Congenital central hypoventilation syndrome
  • Hirschsprung's disease
  • Missense mutation
  • PHOX2B gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Pulmonary and Respiratory Medicine

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