GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.

BACKGROUND The hypoparathyroidism, deafness and renal dysplasia (HDR) syndrome is an autosomal dominant disorder primarily caused by GATA3 gene mutation. We report here a case that both of a Chinese boy and his father had HDR syndrome which caused by a novel mutation of GATA3. METHODS Polymerase chain reaction and DNA sequencing was performed to detect the exons of the GATA3 gene for mutation analysis. RESULTS Sequence analysis of GATA3 revealed a heterozygous nonsense mutation in this family: a mutation of GATA3 at exon 2 (c.515C >A) that resulted in a premature stop at codon 172 (p.S172X) with a loss of two zinc finger domains. CONCLUSION We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.