Late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene

Ismail Al Rashdi*, Mohammed Al Ghafri, Said Al Hanshi, Nabil Al Macki

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Citation (Scopus)

Abstract

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.

Original languageEnglish
Pages (from-to)356-358
Number of pages3
JournalOman Medical Journal
Volume26
Issue number5
DOIs
Publication statusPublished - Sep 2011
Externally publishedYes

Keywords

  • Alveolar hypoventilation
  • Autonomic nervous system
  • Heterozygous
  • Hirschsprung disease
  • Late onset central hypoventilation syndrome
  • PHOX2B
  • Polyalanine repeat

ASJC Scopus subject areas

  • Medicine(all)

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