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 | |
| Publication status | Published - Oct 2008 |
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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
Cite this
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
}
TY - JOUR
T1 - A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome
AU - Parodi, Sara
AU - Baglietto, Maria Pia
AU - Prato, Alessio Pini
AU - Caroli, Francesco
AU - Garaventa, Alberto
AU - Ceccherini, Isabella
AU - Ottonello, Giancarlo
PY - 2008/10
Y1 - 2008/10
N2 - 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.
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.
KW - Congenital central hypoventilation syndrome
KW - Hirschsprung's disease
KW - Missense mutation
KW - PHOX2B gene
UR - http://www.scopus.com/inward/record.url?scp=55049113925&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=55049113925&partnerID=8YFLogxK
U2 - 10.1002/ppul.20892
DO - 10.1002/ppul.20892
M3 - Article
C2 - 18785257
AN - SCOPUS:55049113925
VL - 43
SP - 1036
EP - 1039
JO - Pediatric Pulmonology
JF - Pediatric Pulmonology
SN - 8755-6863
IS - 10
ER -