Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene

Repetto, GM; Corrales, RJ; Abara, SG; Zhou, LL; Berry-Kravis, EM; Rand, CM; Weese-Mayer, DE

Abstract

Aim: to describe a family with later onset congenital central hypoventilation syndrome (LO-CCHS) and heterozygosity for a 24-polyalanine repeat expansion mutation in the PHOX2B gene, rendered phenotypically apparent with exposure to anesthetics. Case summary: An otherwise healthy 2.75-year-old boy presented with alveolar hypoventilation after adenoidectomy and tonsillectomy for obstructive sleep apnea, requiring invasive ventilatory support during sleep. He had a heterozygous 24-polyalanine repeat expansion in the PHOX2B gene (20/24 genotype), a genotype that has not been previously described in association with CCHS or LO-CCHS symptoms. Clinical findings in members of the family with the same 20/24 genotype ranged from asymptomatic to prolonged sedation after benzodiazepines. Conclusion: CCHS should be suspected in individuals presenting with unexplained hypoventilation and/or seizures after anesthetics or sedatives. This is the first report of LO-CCHS in a kindred with the PHOX2B 20/24 genotype. The incomplete penetrance observed in this family suggests a gene-environment interaction. © 2008 The Author(s).

Más información

Título según WOS: Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene
Título según SCOPUS: Later-onset congenital central hypoventilation syndrome due to a heterozygous 24-polyalanine repeat expansion mutation in the PHOX2B gene
Título de la Revista: ACTA PAEDIATRICA
Volumen: 98
Número: 1
Editorial: Wiley
Fecha de publicación: 2009
Página de inicio: 192
Página final: 195
Idioma: English
URL: http://doi.wiley.com/10.1111/j.1651-2227.2008.01039.x
DOI:

10.1111/j.1651-2227.2008.01039.x

Notas: ISI, SCOPUS