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.

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