The CHE is encoded by the mitochondrial protein LETM1 (Jiang et al., 2009; Doonan et al., 2014; Tsai et al., 2014; Shao et al., 2016), although it was first identified as a KHE responsible for mitochondrial dysmorphism in patients with the Wolf-Hirschhorn syndrome (Nowikovsky et al., 2004). Here, LETM1 is linked to Wolf-Hirschhorn syndrome.