GTF2I and Schwartz-Jampel syndrome: Though genes that directly induce SjS have already been identified through the large studies [10,11], several SNPs in molecules of signaling pathways, including IFN signature (IRF5 STAT1, STAT4 and IL12A), B- and T-cell signaling (BAFF, GTF2I, TNFSF4, CXCR5, CCL11 and TNFAIP3) and the NF-κB pathway (TNIP1, CARD8, IKBKE, IRAK1 and TANK), do appear to be involved in the pathogenesis of SjS.