In Europe, the most common mutation loci are p.Gly741Arg, p.Cys994Tyr, p.Leu859Pro, and p.Arg861Cys.[7] However, in China, the frequency of SLC12A3 gene mutations is high, and the most common mutations are p.T60M and p.D486N.[8–16] In theory, only the homozygous mutation is needed to cause the pathogenesis of GS, but in clinical practice, there are also patients with partial compound heterozygous mutations and simple heterozygous mutations. This evidence concerns the gene SLC12A3 and Gerstmann syndrome.