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The genetics of congenital central hypoventilation syndrome: clinical implications

Authors Bishara J, Keens TG, Perez IA

Received 27 March 2018

Accepted for publication 2 August 2018

Published 15 November 2018 Volume 2018:11 Pages 135—144

DOI https://doi.org/10.2147/TACG.S140629

Checked for plagiarism Yes

Review by Single-blind

Peer reviewers approved by Dr Colin Mak

Peer reviewer comments 2

Editor who approved publication: Prof. Dr. Martin H. Maurer


John Bishara,1 Thomas G Keens,1,2 Iris A Perez1,2

1Division of Pediatric Pulmonology and Sleep Medicine, Children’s Hospital Los Angeles, Los Angeles, CA, USA; 2Department of Pediatrics, Keck School of Medicine of USC, Los Angeles, CA, USA

Abstract: Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system (ANS) and respiratory control. This disorder, formerly referred to as Ondine’s curse, is due to a mutation in the PHOX2B gene that affects the development of the neural crest cells. CCHS has an autosomal dominant pattern of inheritance. Majority of the patients have a polyalanine repeat mutation (PARM) of the PHOX2B, while a small group has non-PARM (NPARM). Knowledge of the patient’s PHOX2B gene mutation helps predict a patient’s clinical presentation and outcome and aids in anticipatory management of the respiratory and ANS dysfunction.

Keywords:
diaphragm pacing, noninvasive positive pressure ventilation, genetic counseling, genetic testing, CCHS, PHOX2B, congenital central hypoventilation syndrome

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