Literature DB >> 22125732

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

Ismail Al Rashdi1, Mohammed Al Ghafri, Said Al Hanshi, Nabil Al Macki.   

Abstract

This report describes a 6 year old girl with late onset central hypoventilation syndrome due to a heterozygous polyalanine repeat expansion mutation in the PHOX2B gene. This report aims to increase the awareness of this condition among physicians to allow earlier clinical and genetic diagnosis and management of cases of unexplained hypoventilation.

Entities:  

Keywords:  Alveolar hypoventilation; Autonomic nervous system; Heterozygous; Hirschsprung disease; Late onset central hypoventilation syndrome; PHOX2B; Polyalanine repeat

Year:  2011        PMID： 22125732      PMCID： PMC3215446          DOI： 10.5001/omj.2011.87

Source DB:  PubMed          Journal:  Oman Med J        ISSN： 1999-768X


  16 in total

1.  Adult identified with congenital central hypoventilation syndrome--mutation in PHOX2b gene and late-onset CHS.

Authors:  Debra E Weese-Mayer; Elizabeth M Berry-Kravis; Lili Zhou
Journal:  Am J Respir Crit Care Med       Date:  2005-01-01       Impact factor: 21.405

2.  Failure of automatic control of ventilation (Ondine's curse). Report of an infant born with this syndrome and review of the literature.

Authors:  R B Mellins; H H Balfour; G M Turino; R W Winters
Journal:  Medicine (Baltimore)       Date:  1970-11       Impact factor: 1.889

3.  PHOX2B genotype allows for prediction of tumor risk in congenital central hypoventilation syndrome.

Authors:  Delphine Trochet; Louise M O'Brien; David Gozal; Ha Trang; Agneta Nordenskjöld; Béatrice Laudier; Pär-Johan Svensson; Sabine Uhrig; Trevor Cole; Stephan Niemann; Arnold Munnich; Claude Gaultier; Stanislas Lyonnet; Jeanne Amiel
Journal:  Am J Hum Genet       Date:  2005-01-18       Impact factor: 11.025

4.  Molecular consequences of PHOX2B missense, frameshift and alanine expansion mutations leading to autonomic dysfunction.

Authors:  Delphine Trochet; Seok Jong Hong; Jin Kyu Lim; Jean-François Brunet; Arnold Munnich; Kwang-Soo Kim; Stanislas Lyonnet; Christo Goridis; Jeanne Amiel
Journal:  Hum Mol Genet       Date:  2005-10-25       Impact factor: 6.150

5.  Anesthetic implications of undiagnosed late onset central hypoventilation syndrome in a child: from elective tonsillectomy to tracheostomy.

Authors:  Mohamed Mahmoud; Yvon Bryan; Joel Gunter; Renee N Kreeger; Senthilkumar Sadhasivam
Journal:  Paediatr Anaesth       Date:  2007-10       Impact factor: 2.556

6.  Parental origin and somatic mosaicism of PHOX2B mutations in Congenital Central Hypoventilation Syndrome.

Authors:  Sara Parodi; Tiziana Bachetti; Francesca Lantieri; Marco Di Duca; Giuseppe Santamaria; Giancarlo Ottonello; Ivana Matera; Roberto Ravazzolo; Isabella Ceccherini
Journal:  Hum Mutat       Date:  2008-01       Impact factor: 4.878

Review 7.  Central congenital hypoventilation syndrome: changing face of a less mysterious but more complex genetic disorder.

Authors:  Madeleine Grigg-Damberger; Audrey Wells
Journal:  Semin Respir Crit Care Med       Date:  2009-05-18       Impact factor: 3.119

8.  Idiopathic congenital central hypoventilation syndrome: analysis of genes pertinent to early autonomic nervous system embryologic development and identification of mutations in PHOX2b.

Authors:  Debra E Weese-Mayer; Elizabeth M Berry-Kravis; Lili Zhou; Brion S Maher; Jean M Silvestri; Mark E Curran; Mary L Marazita
Journal:  Am J Med Genet A       Date:  2003-12-15       Impact factor: 2.802

9.  Central hypoventilation with PHOX2B expansion mutation presenting in adulthood.

Authors:  S Barratt; A H Kendrick; F Buchanan; A T Whittle
Journal:  Thorax       Date:  2007-10       Impact factor: 9.139

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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  1 in total

Review 1.  Adolescent Congenital Central Hypoventilation Syndrome: An Easily Overlooked Diagnosis.

Authors:  Marta Ditmer; Szymon Turkiewicz; Agata Gabryelska; Marcin Sochal; Piotr Białasiewicz
Journal:  Int J Environ Res Public Health       Date:  2021-12-20       Impact factor: 3.390
  1 in total

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