A 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

doi:10.1002/ppul.23051

A case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat PHOX2B mutation

Pediatr Pulmonol. 2014 Oct;49(10):E140-3. doi: 10.1002/ppul.23051. Epub 2014 May 5.

Authors

K J Low¹, A R Turnbull, K R Smith, T N Hilliard, L J Hole, D J Meecham Jones, M M Williams, A Donaldson

Affiliation

¹ Department of Clinical Genetics, UHBristol NHS Trust, St Michaels Hospital, Bristol, UK.

PMID: 24799442
DOI: 10.1002/ppul.23051

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. Pediatr Pulmonol. 2014; 49:E140-E143. © 2014 Wiley Periodicals, Inc.

Keywords: CCHS (Congenital Central Hypoventilation Syndrome); Hirschsprung's disease; PHOX2B; neuroblastoma.

Publication types

Case Reports

MeSH terms

Abortion, Habitual / genetics
Female
Homeodomain Proteins / genetics*
Humans
Hypoventilation / congenital*
Hypoventilation / genetics
Infant
Male
Mutation*
Pedigree
Pregnancy
Sleep Apnea, Central / genetics*
Transcription Factors / genetics*

Substances

Homeodomain Proteins
NBPhox protein
Transcription Factors

Supplementary concepts

Congenital central hypoventilation syndrome