Finally, inactivating mutations in PCYT1A gene have been linked to several human pathologies, including retinal dystrophy, spondylometaphyseal dysplasia and lipodystrophy (Hoover-Fong et al., 2014; Payne et al., 2014; Yamamoto et al., 2014). Here, PCYT1A is linked to spondylometaphyseal dysplasia.