A Commentary on The importance of knowing from whence your PHOX2B mutation comes

Abstract

Meguro et al.1 have more fully characterized the growing cohort of patients with Congenital Central Hypoventilation syndrome (CCHS) in Japan. Specifically, they have confirmed the autosomal dominant inheritance pattern2, 3 and described the incidence of somatic mosaicism or full mutation in parents of CCHS probands in the Japanese cohort (22%)—reflecting similar figures to the report (using the same methodology) as Bachetti et al.4