CDC73 and pachyonychia congenita: Moreover, the same germline CDC73 mutations may be associated with HPT‐JT, FIHP, and sporadic PC in different patients; for example, the c.679_680insAG, p.Arg227LysfsX31 mutation has been reported to occur in patients with HPT‐JT (Figure 2 and Table 3), FIHP (Figure 2 and Table 4) and sporadic PC (Figure 2 and Table 5), and the c131+1G > A mutation has been reported to occur in patients with HPT‐JT and FIHP (Tables 3 and 4) (Carpten et al., 2002; Shattuck et al., 2003b; Cetani et al., 2004; Simonds et al., 2004; Bradley et al., 2005a; Newey et al., 2010).