A novel missense mutation in the PHOX2B gene is associated with late onset central hypoventilation syndrome.
Pediatr Pulmonol
; 43(10): 1036-9, 2008 Oct.
Article
em En
| MEDLINE
| ID: mdl-18785257
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.
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fatores de Transcrição
/
Proteínas de Homeodomínio
/
Apneia do Sono Tipo Central
/
Doença de Hirschsprung
Tipo de estudo:
Risk_factors_studies
Limite:
Adolescent
/
Humans
/
Male
Idioma:
En
Revista:
Pediatr Pulmonol
Ano de publicação:
2008
Tipo de documento:
Article