To date, only two genetic variations potentially disrupting ASCL1 have been found (rs533680685 (a 15 bp deletion in the coding region of the gene) and rs267606667 (a missense variant, c.52C > A, p.Pro18Thr)) in patients with congenital central hypoventilation syndrome [60]. Here, ASCL1 is linked to central hypoventilation syndrome, congenital.