The genetics of congenital central hypoventilation syndrome: clinical implications

John Bishara; Thomas G Keens; Iris A Perez

doi:10.2147/TACG.S140629

The genetics of congenital central hypoventilation syndrome: clinical implications

Appl Clin Genet. 2018 Nov 15:11:135-144. doi: 10.2147/TACG.S140629. eCollection 2018.

Authors

John Bishara¹, Thomas G Keens^{1

2}, Iris A Perez^{1

2}

Affiliations

¹ Division of Pediatric Pulmonology and Sleep Medicine, Children's Hospital Los Angeles, Los Angeles, CA, USA, iaperez@chla.usc.edu.
² Department of Pediatrics, Keck School of Medicine of USC, Los Angeles, CA, USA, iaperez@chla.usc.edu.

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.

Publication types

Review