In the first study, conducted by Cole et al., bioinformatic analysis highlighted an extended region of hypomethylation surrounding the promoters of Proteasome subunit beta type-8 (PSMB8) and Transporter associated with Antigen Processing 1 (TAP1), consistent with an increased frequency of antigen-presenting cells found in MSG from SjS patients compared to a control group [60]. Here, PSMB8 is linked to Schwartz-Jampel syndrome.