Transcription factor GATA3 and the human HDR syndrome

Recently, a member of the GATA-binding family of transcription factors was shown to be involved in the human hypoparathyroidism, sensorineural deafnes s and renal anomalies (HDR) syndrome. Deletion-mapping studies and subseque nt mutation analysis revealed that haploinsufficiency for GATA3 is the unde rlying mechanism of the HDR syndrome. Here we discuss the clinical characte ristics of the HDR syndrome and present an overview of the role of GATA3 an d related GATA-binding transcription factors during vertebrate embryonic de velopment and their involvement in human disease.