Other studies also provided evidence that missense variant rs2233580 (p.Arg192His) in PAX4 gene was significantly associated with T2D, which is related to the reduction of C-peptide and the age of diagnosis in T2D patients [50] Combined with the occurrence of PAX4 arg192his (rs2233580) genotype in eDia3 patients in this study, it is also confirmed that it may be a high-risk genetic factor for eDia3 in China [48]. This evidence concerns the gene PAX4 and type 2 diabetes mellitus.