The hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal
dominant disorder caused by mutations of the dual zinc finger transcription factor, GATA3.
The C-terminal zinc finger (ZnF2) binds DNA, whereas the N-terminal finger (ZnF1)
stabilizes this DNA binding and interacts with other zinc finger proteins, such as the Friends
of GATA (FOG). We have investigated seven HDR probands and their families for GATA3
abnormalities and have identified two nonsense mutations (Glu-228→ Stop and Arg-367→ …