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.