Homozygous <i>DBX1</i> Nonsense Variant in a Case of Atypical Congenital Central Hypoventilation

Dbx1 (developing brain homeobox 1) has an established critical role for mammalian inspiration, dramatically illustrated by the rapid postnatal demise of Dbx1 null mice because of asphyxia. Here, we describe the first human patient with atypical CCHS harboring a deleterious variant in the <i>DBX1</i> gene. Surprisingly, over time, our patient gradually achieved the capability of ventilator-independent respiration, although with an irregular rhythm and only during the wake state. These findings suggest that DBX1-deficient individuals are able to install alternative neuronal circuits that maintain inspiratory drive during the wake state.