GATA3

Research collaboration

The syndrome was described for the first time in 1977. The second report was published in 1992. Since then, more and more cases have been appearing in the literature from all over the world. Many patients have probably been missed or have not been reported. Only 64.4% of reported cases had the full spectrum of HDR. It is possible that some findings could have been overlooked or could have appeared later on in life. The phenotypic heterogeneity of the syndrome is due to variability of expression and incomplete penetrance of GATA3 mutations. The syndrome may also be a contiguous gene syndrome, and clinical variations may be caused by the extent of the GATA3 gene deletions. Given the fact that GATA3 defects were not detected in 9.4% of the reported patients, and 22% were not studied, leaves open the possibility of the presence of other gene defects associated with this disorder. Also, the syndrome seems to demonstrate the mechanism of genetic anticipation, the phenomenon in which successive generations exhibit earlier onset or greater severity of the disease. Reports have described cases with variable phenotype expression and genotype heterogeneity. Because of all these facts, we recommend that all patients diagnosed with the syndrome should be reported in order to identify all possible phenotypes and genotypes, to better understand the prevalence and phenotypes and genotypes of the syndrome.