Literature DB >> 17909190

Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

S Barratt1, A H Kendrick, F Buchanan, A T Whittle.   

Abstract

Congenital central hypoventilation syndrome most commonly presents in neonates with sleep related hypoventilation; late onset cases have occurred up to the age of 10 years. It is associated with mutations in the PHOX2B gene, encoding a transcription factor involved in autonomic nervous system development. The case history is described of an adult who presented with chronic respiratory failure due to PHOX2B mutation-associated central hypoventilation and an impaired response to hypercapnia.

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Year:  2007        PMID： 17909190      PMCID： PMC2094255          DOI： 10.1136/thx.2006.068908

Source DB:  PubMed          Journal:  Thorax        ISSN： 0040-6376            Impact factor:   9.139


  13 in total

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Journal:  Am J Respir Crit Care Med       Date:  1999-07       Impact factor: 21.405

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Authors:  D Gothi; J M Joshi
Journal:  Indian J Chest Dis Allied Sci       Date:  2005 Oct-Dec

6.  Abnormal esophageal motility in children with congenital central hypoventilation syndrome.

Authors:  Christophe Faure; Fabienne Viarme; Guillaume Cargill; Jean Navarro; Claude Gaultier; Ha Trang
Journal:  Gastroenterology       Date:  2002-05       Impact factor: 22.682

7.  Polyalanine expansion and frameshift mutations of the paired-like homeobox gene PHOX2B in congenital central hypoventilation syndrome.

Authors:  Jeanne Amiel; Béatrice Laudier; Tania Attié-Bitach; Ha Trang; Loïc de Pontual; Blanca Gener; Delphine Trochet; Heather Etchevers; Pierre Ray; Michel Simonneau; Michel Vekemans; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet
Journal:  Nat Genet       Date:  2003-03-17       Impact factor: 38.330

8.  24-hour BP in children with congenital central hypoventilation syndrome.

Authors:  Ha Trang; Souham Boureghda; Isabelle Denjoy; Mohamed Alia; Michel Kabaker
Journal:  Chest       Date:  2003-10       Impact factor: 9.410

9.  Phox2b controls the development of peripheral chemoreceptors and afferent visceral pathways.

Authors:  Stéphane Dauger; Alexandre Pattyn; Frédéric Lofaso; Claude Gaultier; Christo Goridis; Jorge Gallego; Jean-François Brunet
Journal:  Development       Date:  2003-11-19       Impact factor: 6.868

10.  PHOX2B mutations and polyalanine expansions correlate with the severity of the respiratory phenotype and associated symptoms in both congenital and late onset Central Hypoventilation syndrome.

Authors:  I Matera; T Bachetti; F Puppo; M Di Duca; F Morandi; G M Casiraghi; M R Cilio; R Hennekam; R Hofstra; J G Schöber; R Ravazzolo; G Ottonello; I Ceccherini
Journal:  J Med Genet       Date:  2004-05       Impact factor: 6.318
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  7 in total

1.  Late Onset Central Hypoventilation Syndrome due to a Heterozygous Polyalanine Repeat Expansion Mutation in the PHOX2B Gene.

Authors:  Ismail Al Rashdi; Mohammed Al Ghafri; Said Al Hanshi; Nabil Al Macki
Journal:  Oman Med J       Date:  2011-09

Review 2.  Congenital central hypoventilation syndrome and the PHOX2B gene: a model of respiratory and autonomic dysregulation.

Authors:  Pallavi P Patwari; Michael S Carroll; Casey M Rand; Rajesh Kumar; Ronald Harper; Debra E Weese-Mayer
Journal:  Respir Physiol Neurobiol       Date:  2010-06-30       Impact factor: 1.931

3.  Adult cases of late-onset congenital central hypoventilation syndrome and paired-like homeobox 2B-mutation carriers: an additional case report and pooled analysis.

Authors:  Aoi Hino; Jiro Terada; Hajime Kasai; Hikaru Shojima; Keiko Ohgino; Ayako Sasaki; Kiyoshi Hayasaka; Koichiro Tatsumi
Journal:  J Clin Sleep Med       Date:  2020-11-15       Impact factor: 4.062

Review 4.  Congenital central hypoventilation syndrome: a bedside-to-bench success story for advancing early diagnosis and treatment and improved survival and quality of life.

Authors:  Debra E Weese-Mayer; Casey M Rand; Amy Zhou; Michael S Carroll; Carl E Hunt
Journal:  Pediatr Res       Date:  2016-09-27       Impact factor: 3.756

5.  Congenital central hypoventilation syndrome mimicking mitochondrial disease.

Authors:  Kitiwan Rojnueangnit; Maria Descartes
Journal:  Clin Case Rep       Date:  2018-01-19

Review 6.  The genetics of congenital central hypoventilation syndrome: clinical implications.

Authors:  John Bishara; Thomas G Keens; Iris A Perez
Journal:  Appl Clin Genet       Date:  2018-11-15

Review 7.  Guidelines for diagnosis and management of congenital central hypoventilation syndrome.

Authors:  Ha Trang; Martin Samuels; Isabella Ceccherini; Matthias Frerick; Maria Angeles Garcia-Teresa; Jochen Peters; Johannes Schoeber; Marek Migdal; Agneta Markstrom; Giancarlo Ottonello; Raffaele Piumelli; Maria Helena Estevao; Irena Senecic-Cala; Barbara Gnidovec-Strazisar; Andreas Pfleger; Raquel Porto-Abal; Miriam Katz-Salamon
Journal:  Orphanet J Rare Dis       Date:  2020-09-21       Impact factor: 4.123
  7 in total

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