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

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 journal › Article (Academic Journal) › peer-review

20 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 language	English
Pages (from-to)	E140-E143
Journal	Pediatric Pulmonology
Volume	49
Issue number	10
DOIs	https://doi.org/10.1002/ppul.23051
Publication status	Published - 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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@article{669f58bc23bf4f99bb1eede28a357689,

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

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.",

keywords = "CCHS (Congenital Central Hypoventilation Syndrome), Hirschsprung's disease, Neuroblastoma, PHOX2B",

author = "Low, \{K. J.\} and Turnbull, \{A. R.\} and Smith, \{K. R.\} and Hilliard, \{T. N.\} and Hole, \{L. J.\} and \{Meecham Jones\}, \{D. J.\} and Williams, \{M. M.\} and A. Donaldson",

note = "Publisher Copyright: {\textcopyright} 2014 Wiley Periodicals, Inc.",

year = "2014",

month = oct,

doi = "10.1002/ppul.23051",

language = "English",

volume = "49",

pages = "E140--E143",

journal = "Pediatric Pulmonology",

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TY - JOUR

T1 - Case of congenital central hypoventilation syndrome in a three-generation family with non-polyalanine repeat phox2b mutation

AU - Low, K. J.

AU - Turnbull, A. R.

AU - Smith, K. R.

AU - Hilliard, T. N.

AU - Hole, L. J.

AU - Meecham Jones, D. J.

AU - Williams, M. M.

AU - Donaldson, A.

PY - 2014/10

Y1 - 2014/10

N2 - 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.

AB - 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.

KW - CCHS (Congenital Central Hypoventilation Syndrome)

KW - Hirschsprung's disease

KW - Neuroblastoma

KW - PHOX2B

UR - https://www.scopus.com/pages/publications/84908134825

U2 - 10.1002/ppul.23051

DO - 10.1002/ppul.23051

M3 - Article (Academic Journal)

C2 - 24799442

AN - SCOPUS:84908134825

SN - 8755-6863

VL - 49

SP - E140-E143

JO - Pediatric Pulmonology

JF - Pediatric Pulmonology

IS - 10

ER -

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

Abstract

Bibliographical note

Keywords

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