INS and type 1 diabetes mellitus: found that G228W and R257X mutations in SAND, C311fsX376 and L397fsX478 mutations in PHD1 and R433fsX502 mutations in PHD2 of Aire resulted in inhibition of INS-VNTR transcription, which may contribute to inactivity of the insulin in mTECs and subsequently induce insulin resistance or T1D (49).