Accumulating evidence has demonstrated that the mutations in the solute carrier family 12 member 3 (SLC12A3) gene, mainly including Thr60Met, Ala313Val AAsp486Asn, Gly741Arg, Arg861Cys, Leu859Pro, Cys994Tyr, Arg913Gln and Arg928Cys, cause GS (Knoers and Levtchenko, 2008; Vargas-Poussou et al., 2011; Blanchard et al., 2017; Fujimura et al., 2018; Zeng et al., 2019). Here, SLC12A3 is linked to Gerstmann syndrome.