Congenital central hypoventilation syndrome: Severe disease caused by co-occurrence of two PHOX2B variants inherited separately from asymptomatic family members.
Congenital Central Hypoventilation Syndrome (CCHS) is a rare disease characterized by autonomic nervous system dysregulation. Central hypoventilation is the most prominent and clinically important presentation. CCHS is caused by mutations in paired-like homeobox 2b (PHOX2B) and is inherited in an autosomal dominant pattern. A co-occurrence of two asymptomatic PHOX2B variants with a classical CCHS presentation highlights the importance of clinical PHOX2B testing in parents and family members of all CCHS probands. Despite being an autosomal dominant disease, once a polyalanine repeat expansion mutation has been identified, sequencing of the other allele should also be considered.
['Sivan|Yakov|Y|0000-0002-5304-896X', 'Zhou|Amy|A|', 'Jennings|Lawrence J|LJ|', 'Berry-Kravis|Elizabeth M|EM|', 'Yu|Min|M|', 'Zhou|Lili|L|', 'Rand|Casey M|CM|', 'Weese-Mayer|Debra E|DE|']
D058070:Asymptomatic Diseases D005260:Female D014644:Genetic Variation D018398:Homeodomain Proteins D006801:Humans D007040:Hypoventilation D008297:Male D009154:Mutation D010375:Pedigree D010641:Phenotype D020182:Sleep Apnea, Central D014157:Transcription Factors
CCHS autosomal dominant polyalanine repeat expansion mutation non-polyalanine repeat mutation autosomal recessive