More than 600 different mutations in SLC12A3, including nonsense, splice-site, and missense mutations, have been linked to GS.[4] Mutations in the SLC12A3 gene cause structural changes and/or dysfunction of the renal thiazide-sensitive sodium–chloride cotransporter (NCCT), which leads to disturbance of tubular reabsorption of sodium and chloride ions. Here, SLC12A3 is linked to Gerstmann syndrome.