Up to now, several PAX4 mutations associated with DM have been reported, including six missense mutations (R121W, R129W, R133W, R164W, R192H, and P321H) (Shimajiri et al. 2001; Mauvais-Jarvis et al. 2004; Plengvidhya et al. 2007; Hu He et al. 2011; Sujjitjoon et al. 2016a), a 39-bp deletion in exon 3 (Jo et al. 2011), and an splice acceptor site mutation of IVS7-1G > A (Sujjitjoon et al. 2016b). The gene discussed is PAX4; the disease is diabetes mellitus.