PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood

Nick A. Antic; Beth A. Malow; Neale Lange; R. Doug McEvoy; Amy L. Olson; Peter Turkington; Wolfram Windisch; Martin Samuels; Cathy A. Stevens; Elizabeth M. Berry-Kravis; Debra E. Weese-Mayer

doi:10.1164/rccm.200605-607CR

PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood

Nick A. Antic, Beth A. Malow, Neale Lange, R. Doug McEvoy, Amy L. Olson, Peter Turkington, Wolfram Windisch, Martin Samuels, Cathy A. Stevens, Elizabeth M. Berry-Kravis, Debra E. Weese-Mayer^*

^*Corresponding author for this work

Pediatrics

Research output: Contribution to journal › Article › peer-review

111 Scopus citations

Abstract

Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.

Original language	English (US)
Pages (from-to)	923-927
Number of pages	5
Journal	American journal of respiratory and critical care medicine
Volume	174
Issue number	8
DOIs	https://doi.org/10.1164/rccm.200605-607CR
State	Published - Oct 15 2006

Keywords

Congenital central hypoventilation syndrome
PHOX2B gene

ASJC Scopus subject areas

Critical Care and Intensive Care Medicine
Pulmonary and Respiratory Medicine

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10.1164/rccm.200605-607CR

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Antic, N. A., Malow, B. A., Lange, N., McEvoy, R. D., Olson, A. L., Turkington, P., Windisch, W., Samuels, M., Stevens, C. A., Berry-Kravis, E. M., & Weese-Mayer, D. E. (2006). PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood. American journal of respiratory and critical care medicine, 174(8), 923-927. https://doi.org/10.1164/rccm.200605-607CR

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abstract = "Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.",

keywords = "Congenital central hypoventilation syndrome, PHOX2B gene",

author = "Antic, {Nick A.} and Malow, {Beth A.} and Neale Lange and McEvoy, {R. Doug} and Olson, {Amy L.} and Peter Turkington and Wolfram Windisch and Martin Samuels and Stevens, {Cathy A.} and Berry-Kravis, {Elizabeth M.} and Weese-Mayer, {Debra E.}",

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Antic, NA, Malow, BA, Lange, N, McEvoy, RD, Olson, AL, Turkington, P, Windisch, W, Samuels, M, Stevens, CA, Berry-Kravis, EM & Weese-Mayer, DE 2006, 'PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood', American journal of respiratory and critical care medicine, vol. 174, no. 8, pp. 923-927. https://doi.org/10.1164/rccm.200605-607CR

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T1 - PHOX2B mutation-confirmed congenital central hypoventilation syndrome

T2 - Presentation in adulthood

AU - Antic, Nick A.

AU - Malow, Beth A.

AU - Lange, Neale

AU - McEvoy, R. Doug

AU - Olson, Amy L.

AU - Turkington, Peter

AU - Windisch, Wolfram

AU - Samuels, Martin

AU - Stevens, Cathy A.

AU - Berry-Kravis, Elizabeth M.

AU - Weese-Mayer, Debra E.

PY - 2006/10/15

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AB - Congenital central hypoventilation syndrome (CCHS) typically presents in the newborn period. A case series of five adults is presented, each heterozygous for a documented polyalanine expansion mutation in the PHOX2B gene and evidence of nocturnal alveolar hypoventilation. All cases had symptoms in childhood, but survived to adulthood without ventilatory support. After identification of physiologic compromise, artificial ventilation was initiated. These adults have the mildest of the CCHS-related PHOX2B polyalanine expansion mutations, coding for only five extra alanines; three of the adults have affected offspring. Report of these cases should lead to a more rapid identification of CCHS presenting in adulthood.

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KW - PHOX2B gene

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PHOX2B mutation-confirmed congenital central hypoventilation syndrome: Presentation in adulthood

Abstract

Keywords

ASJC Scopus subject areas

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