This is a real-world medical entrance exam question, please give the true answer based on the question and selection. Topic name: Central Nervous System, Subject name: Pediatrics
The genetic mutation most commonly linked with congenital central hypoventilation syndrome is: 
Select and explain. 
A. Mutation in sodium channel alpha 1 subunit, B. Mutation in paired like homeobox 2B gene, C. Mutation in outer dynein arm, D. All of the above
B: Mutation in paired like homeobox 2B gene
Answer: B: Mutation in paired like homeobox 2B gene 
Explanation: b. Mutation in paired like homeobox 2B gene(Ref: Nelson's 20/e p 2148)Congenital central hypoventilation syndrome (CCHS) or Ondine curse is most commonly related to a PHOX2B fpaired-like homeobox 2B) mutation, which presents in the neonatal period and also associates with autonomic problems (Hirschsprung disease) and neural crest tumorsIn the classic case of CCHS, symptoms of alveolar hypoventilation are manifest in the newborn period and during sleep only--with diminished tidal volume and a typically monotonous respiratory rate with cyanosis and hypercarbia. In more severe cases of CCHS, the hypoventilation is manifest during wakefulness and sleep.