The genetic mutation most commonly linked with congenital central hypoventilation syndrome is:
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.
Mutation in sodium channel alpha 1 subunit
Mutation in paired like homeobox 2B gene
Mutation in outer dynein arm
All of the above
Central Nervous System