The reported mutations for primary lymphedema are missense mutations and result in amino acid substitutions in various domains of the Cx47 protein, i.e., NT (H16P), ELs (S45L and R257C), IL (R122Q and G146S) and CT (P313L, P381S and H409Y) [45,46,49] (Table 1). The gene discussed is GJC2; the disease is lymphedema.