Literature DB >> 24799442

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

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

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. © 2014 Wiley Periodicals, Inc.

Entities:  

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

Mesh：

Substances：

Year:  2014        PMID： 24799442     DOI： 10.1002/ppul.23051

Source DB:  PubMed          Journal:  Pediatr Pulmonol        ISSN： 1099-0496


  10 in total

1.  Three-Generation Family With Congenital Central Hypoventilation Syndrome and Novel PHOX2B Gene Non-Polyalanine Repeat Mutation.

Authors:  Ajay S Kasi; Taryn J Jurgensen; Stephanie Yen; Sheila S Kun; Thomas G Keens; Iris A Perez
Journal:  J Clin Sleep Med       Date:  2017-07-15       Impact factor: 4.062

2.  Atypical presentations associated with non-polyalanine repeat PHOX2B mutations.

Authors:  Umakanth Katwa; Alissa M D'Gama; Anita E Qualls; Lucas M Donovan; Jody Heffernan; Jiahai Shi; Pankaj B Agrawal
Journal:  Am J Med Genet A       Date:  2018-04-28       Impact factor: 2.802

3.  Severe Positional Central Sleep Apnea in an Asymptomatic Adult With a PHOX2B Frameshift Mutation.

Authors:  Hennie C J P Janssen; Anneke T Vulto-van Silfhout; Marjolijn C J Jongmans; Annemieke H van der Hout; Sebastiaan Overeem
Journal:  J Clin Sleep Med       Date:  2018-08-15       Impact factor: 4.062

4.  Expanding the phenotype of congenital central hypoventilation syndrome impacts management decisions.

Authors:  Heather M Byers; Maida Chen; Andrew S Gelfand; Bruce Ong; Marisa Jendras; Ian A Glass
Journal:  Am J Med Genet A       Date:  2018-04-25       Impact factor: 2.802

5.  Nonsense pathogenic variants in exon 1 of PHOX2B lead to translational reinitiation in congenital central hypoventilation syndrome.

Authors:  Jacob T Cain; Dae I Kim; Megan Quast; Winnie G Shivega; Ryan J Patrick; Chuanpit Moser; Suzanne Reuter; Myrza Perez; Angela Myers; Jill M Weimer; Kyle J Roux; Megan Landsverk
Journal:  Am J Med Genet A       Date:  2017-03-29       Impact factor: 2.802

6.  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

7.  Congenital central hypoventilation syndrome in neonates: report of fourteen new cases and a review of the literature.

Authors:  Mei Mei; Lin Yang; Yulan Lu; Laishuan Wang; Guoqiang Cheng; Yun Cao; Chao Chen; Liling Qian; Wenhao Zhou
Journal:  Transl Pediatr       Date:  2021-04

Review 8.  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 9.  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

10.  A respiratory/Hirschsprung phenotype in a three-generation family associated with a novel pathogenic PHOX2B splice donor mutation.

Authors:  Nikolai Paul Pace; Michael Pace Bardon; Isabella Borg
Journal:  Mol Genet Genomic Med       Date:  2020-10-13       Impact factor: 2.183
  10 in total

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