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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


Checked for plagiarism Yes

Review by Single anonymous peer review

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.

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

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