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

doi:10.1002/ppul.20892

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

Istituto "Giannina Gaslini"

Research output: Contribution to journal › Article › peer-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 language	English
Pages (from-to)	1036-1039
Number of pages	4
Journal	Pediatric Pulmonology
Volume	43
Issue number	10
DOIs	https://doi.org/10.1002/ppul.20892
Publication status	Published - 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

Access to Document

10.1002/ppul.20892

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A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome. / Parodi, Sara; Baglietto, Maria Pia; Prato, Alessio Pini; Caroli, Francesco; Garaventa, Alberto ; Ceccherini, Isabella; Ottonello, Giancarlo.

In: Pediatric Pulmonology, Vol. 43, No. 10, 10.2008, p. 1036-1039.

Research output: Contribution to journal › Article › peer-review

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AU - Garaventa, Alberto

AU - Ceccherini, Isabella

AU - Ottonello, Giancarlo

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AB - 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.

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