title: A novel GATA3 nonsense mutation in a newly diagnosed adult patient of hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome.
abstract: OBJECTIVE
  Hypoparathyroidism, deafness, and renal dysplasia (HDR) syndrome is an autosomal dominant disorder caused by a GATA3 gene mutation. Here we report a novel mutation of GATA3 in a patient diagnosed with HDR syndrome at the age of 58 with extensive intracranial calcification.
  
  
  METHODS
  A 58-year-old Japanese man showed severe hypocalcemia and marked calcification in the basal ganglia, cerebellum, deep white matter, and gray-white junction on computed tomography (CT). The serum intact parathyroid hormone level was relatively low against low serum calcium concentration. The patient had been diagnosed with bilateral sensorineural deafness in childhood and had a family history of hearing disorders. Imaging studies revealed no renal anomalies. The patient was diagnosed with HDR syndrome, and genetic testing was performed.
  
  
  RESULTS
  Genetic analysis of GATA3 showed a novel nonsense mutation at codon 198 (S198X) in exon 3. The S198X mutation leads to a loss of two zinc finger deoxyribonucleic acid (DNA) binding domains and is considered to be responsible for HDR syndrome.
  
  
  CONCLUSIONS
  We identified a novel nonsense mutation of GATA3 in an adult patient with HDR syndrome who showed extensive intracranial calcification.
authors.affiliation: Department of Endocrinology and Metabolism, National Hospital Organization Kyoto Medical Center, Kyoto, Japan.
authors.forename: Kazutaka
authors.initials: K
authors.lastname: Nanba
authors.forename: Takeshi
authors.initials: T
authors.lastname: Usui
authors.forename: Michikazu
authors.initials: M
authors.lastname: Nakamura
authors.forename: Yuko
authors.initials: Y
authors.lastname: Toyota
authors.forename: Keisho
authors.initials: K
authors.lastname: Hirota
authors.forename: Tamiko
authors.initials: T
authors.lastname: Tamanaha
authors.forename: Sachiko-Tsukamoto
authors.initials: ST
authors.lastname: Kawashima
authors.forename: Kanako
authors.initials: K
authors.lastname: Nakao
authors.forename: Akiko
authors.initials: A
authors.lastname: Yuno
authors.forename: Tetsuya
authors.initials: T
authors.lastname: Tagami
authors.forename: Mitsuhide
authors.initials: M
authors.lastname: Naruse
authors.forename: Akira
authors.initials: A
authors.lastname: Shimatsu
mesh_terms: D050990:GATA3 Transcription Factor / Q000235:genetics*; D006319:Hearing Loss, Sensorineural / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D009154:Mutation; D009401:Nephrosis / Q000235:genetics*
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human