Case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat phox2b mutation

K. J. Low*, A. R. Turnbull, K. R. Smith, T. N. Hilliard, L. J. Hole, D. J. Meecham Jones, M. M. Williams, A. Donaldson

*Corresponding author for this work

Research output: Contribution to journalArticle (Academic Journal)peer-review

19 Citations (Scopus)

Abstract

We describe a three generation family in whom multiple individuals are variably affected due to a PHOX2B non-polyalanine repeat mutation. This family demonstrates extreme phenotypic variability and autosomal dominant transmission over three generations not previously reported in the wider literature. Novel findings also inclue a history of recurrent second trimester miscarriage.

Original languageEnglish
Pages (from-to)E140-E143
JournalPediatric Pulmonology
Volume49
Issue number10
DOIs
Publication statusPublished - Oct 2014

Bibliographical note

Publisher Copyright:
© 2014 Wiley Periodicals, Inc.

Keywords

  • CCHS (Congenital Central Hypoventilation Syndrome)
  • Hirschsprung's disease
  • Neuroblastoma
  • PHOX2B

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