In a previous study of a family with GS complicated with thyroid disease, it was found that the thyroid function was abnormal in members carrying the c.1456 G > A heterozygous mutation (p.D486N) in exon 12 of the SLC12A3 gene, regardless of whether or not they had a diagnosis of GS, leading to the hypothesis that the mutation at this locus may affect thyroid function [3]. This evidence concerns the gene SLC12A3 and Gerstmann syndrome.