Congenital Central Hypoventilation Syndrome
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Congenital Central Hypoventilation Syndrome is not the name you expected.
Congenital central hypoventilation syndrome (CCHS) is a rare disorder of respiratory control and autonomic nervous system (ANS) regulation. Respiratory control is the automatic function of breathing in response to varied activities of daily living (ex. exercise, concentration, sleep, eating), so within the context of the ANS. The ANS is the portion of the nervous system that controls or regulates many involuntary body functions including heart rate, blood pressure, temperature regulation, bowel and bladder control, breathing, and more. Impaired breathing regulation (respiratory control) is the hallmark of CCHS. Individuals with CCHS typically present in the newborn period with inadequate shallow breathing (alveolar hypoventilation) during sleep and, in more severely affected individuals, during wakefulness and sleep. Breathing complications occur despite normal lungs and a normal airway, because of the abnormal control of breathing. A growing number of individuals are now being identified whose symptoms were not apparent until later infancy, childhood, or even adulthood and are called later onset congenital central hypoventilation syndrome (LO-CCHS).
All individuals with CCHS have a mutation in the PHOX2B gene. The PHOX2B gene plays an important role in the prenatal development of the ANS. The normal PHOX2B gene has a region with 20 repeats of a code for the amino acid, alanine. For those individuals with CCHS, the majority (~90%) have a mutation causing an increase in the number of these alanine repeats above the normal 20 alanines. This is called a polyalanine repeat expansion mutation (PARM). The expansion can be from 24 to 33 alanines, so the genotype for CCHS patients will be 20/24-20/33 (reflecting the normal number of alanines on the normal gene (n=20) and the number of alanines on the abnormal gene (n==24-33). The remaining individuals with CCHS have a different type of abnormality in the PHOX2B gene. These other mutations in the PHOX2B gene are called non-polyalanine repeat expansion mutations (NPARM). They can be missense, nonsense, frameshift, or stop codon mutations and they will typically severely alter the protein coded by the PHOX2B gene.
CCHS Family Network (Congenital Central Hypoventilation Syndrome)
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- Website: http://www.CCHSNetwork.org
Genetic and Rare Diseases (GARD) Information Center
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International Foundation for Functional Gastrointestinal Disorders
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NIH/National Institute of Neurological Disorders and Stroke
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- Website: http://www.ninds.nih.gov/
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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Last Updated: 6/17/2015
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