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...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 fi nger domains.Conclusion:We identifi ed a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.展开更多
基金supported by grants from the Nanjing Health Bureau scientifi c research foundation(NO.YKK11078 and YKK12106).
文摘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 fi nger domains.Conclusion:We identifi ed a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.
