In addition to the important function of CCTα in PC synthesis, genetic studies revealed that loss-of-function mutations in the PCYT1A gene were associated with three diseases: lipodystrophy (c.838_840delCTC, p.E280del) [9], spondylometaphyseal dysplasia with cone-rod dystrophy (SMD-CRD) (c.296C-T transition, p.A99V; c.448C-G transversion, p.P150A) [13, 14], and isolated retinal dystrophy (c.897 + 1G4A, p.A93T, p.R283*) [15]. The gene discussed is PCYT1A; the disease is spondylometaphyseal dysplasia.