JAGN1 and Cohen syndrome: Recently, mutations in G6PC3 (G6PC3 deficiency), GFI1 (GFI1 deficiency), VPS45 (VPS45 deficiency), G6PT1 (glycogen storage disease type 1b), WAS (X-linked neutropenia), ROBLD3/LAMTOR2 (P14/LAMTOR2 deficiency), TAZ (Barth Syndrome), COH1 (Cohen syndrome), C16ORF57 (Clericuzio syndrome Poikiloderma with neutropenia), JAGN1 (JAGN1 deficiency), CLPB (3-methylglutaconic aciduria), CSF3R (G-CSF receptor deficiency) were attributed to SCN (1).