title: GATA3 mutation in a family with hypoparathyroidism, deafness and renal dysplasia syndrome.
abstract: 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.
  
  
  CONCLUSIONS
  We identified a novel nonsense mutation which will expand the spectrum of HDR-associated GATA3 mutations.
authors.affiliation: Department of Pediatric Endocrinology, Nanjing Children's Hospital Affiliated to Nanjing Medical University, 72 Guangzhou Road, Nanjing, 210008, China.
authors.forename: Zi-Yang
authors.initials: ZY
authors.lastname: Zhu
authors.forename: Qiao-Li
authors.initials: QL
authors.lastname: Zhou
authors.forename: Shi-Ning
authors.initials: SN
authors.lastname: Ni
authors.forename: Wei
authors.initials: W
authors.lastname: Gu
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D015415:Biomarkers / Q000097:blood; D002648:Child; D018389:Codon, Nonsense; D003638:Deafness / Q000175:diagnosis / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005220:Fathers; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D021782:Multicystic Dysplastic Kidney / Q000175:diagnosis / Q000235:genetics*; D010375:Pedigree; D016133:Polymerase Chain Reaction; D017422:Sequence Analysis, DNA; D013577:Syndrome
chemical_list: D015415:Biomarkers; D018389:Codon, Nonsense; D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human