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Review
. 2018 Nov 15:11:135-144.
doi: 10.2147/TACG.S140629. eCollection 2018.

The genetics of congenital central hypoventilation syndrome: clinical implications

John Bishara  1 , Thomas G Keens  1   2 , Iris A Perez  1   2
Affiliations
Review

The genetics of congenital central hypoventilation syndrome: clinical implications

John Bishara et al. Appl Clin Genet. .

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

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Conflict of interest statement

Disclosure The authors report no conflicts of interest in this work.

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