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- Title
The genetics of congenital central hypoventilation syndrome: clinical implications.
- Authors
Bishara, John; Keens, Thomas G; Perez, Iris A
- 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.
- Subjects
AUTONOMIC nervous system; CONGENITAL central hypoventilation syndrome; POLYALANINE; GENETIC testing; GENETIC counseling
- Publication
Application of Clinical Genetics, 2018, Vol 11, p135
- ISSN
1178-704X
- Publication type
Article
- DOI
10.2147/TACG.S140629