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

Gabriela M. Repetto, Raul J. Corrales, Selim G. Abara, Lili Zhou, Elizabeth M. Berry-Kravis, Casey M. Rand, Debra E. Weese-Mayer

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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.

Original languageEnglish (US)
Pages (from-to)192-195
Number of pages4
JournalActa Paediatrica, International Journal of Paediatrics
Volume98
Issue number1
DOIs
Publication statusPublished - Jan 1 2009

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Keywords

  • Anesthetics
  • Central sleep apnea
  • Congenital central hypoventilation syndrome
  • PHOX2B gene

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health

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