After Van Esch et al. [4] revealed that the haploinsufficiency of GATA3 located on chromosome 10p14-p15 causes human HDR syndrome through deletion-mapping studies in two HDR patients, there have been many studies of the GATA3 gene related to HDR syndrome [5]. This evidence concerns the gene GATA3 and Hypoparathyroidism - deafness - renal disease.