title: A novel mutation in the GATA3 gene of a Japanese patient with PTH-deficient hypoparathyroidism.
abstract: Hypoparathyroidism is a disease characterized by hypocalcemia and hyperphosphatemia derived from deficient actions of parathyroid hormone (PTH). We report the case of 43-year-old Japanese man with PTH-deficient hypoparathyroidism introduced to an endocrinologist in our hospital. As he had complained of hearing disturbance since the age of 20, we decided to investigate the GATA3 gene. Direct sequencing of PCR products identified a novel heterozygous mutation, 432insG, in the GATA3 gene. The mutation introduces a premature stop codon at exon 4 (K302X), which results in a loss of both zinc finger domains of the GATA3 protein. However, because the mutation in the GATA3 gene found in this patient is highly likely to impair GATA3 function, we speculate that it is extremely unlikely that this patient has mutations in other genes that cause PTH-deficient hypoparathyroidism, in addition to the GATA3 mutation described here.
authors.affiliation: Division of Pediatrics, University of Tokyo Hospital, Tokyo, Japan.
authors.forename: Tasuku
authors.initials: T
authors.lastname: Saito
authors.forename: Seiji
authors.initials: S
authors.lastname: Fukumoto
authors.forename: Nobuaki
authors.initials: N
authors.lastname: Ito
authors.forename: Hisanori
authors.initials: H
authors.lastname: Suzuki
authors.forename: Takashi
authors.initials: T
authors.lastname: Igarashi
authors.forename: Toshiro
authors.initials: T
authors.lastname: Fujita
mesh_terms: D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002648:Child; D004252:DNA Mutational Analysis; D050990:GATA3 Transcription Factor / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics*; D007564:Japan; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation / Q000235:genetics*; D010281:Parathyroid Hormone / Q000172:deficiency*
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human; C470125:PTH protein, human; D010281:Parathyroid Hormone