title: [A genomic study of adult-onset idiopathic hypoparathyroidism in Chinese by targeted next-generation sequencing].
abstract: OBJECTIVE
  Several genes have been recognized to be associated with non-surgical hypoparathyroidism. Data about gene mutations in adult-onset hypoparathyroidism patients is lacking. This study was designed to screen gene mutation in adult-onset hypoparathyroidism in Chinese through the targeted next-generation sequencing (NGS).
  
  
  METHODS
  We recruited 17 patients with adult-onset hypoparathyroidism who were regularly followed or newly diagnosed at our centre during the past one year. Nine of them developed hypercalciuria during the treatment with calcium and vitamin D. Eight of them were newly diagnosed with no treatment. Targeted NGS was performed to screen 11 related genes, including AIRE, AP2S1, CASR, CLDN16, FAM111A, GATA3, GCM2, PTH, TBCE, TBX1 and TRPM6.
  
  
  RESULTS
  A novel homozygosis mutation of GCMB gene[c.130G>A (p.G44S)]was identified which was predicted to be deleterious by PolyPhen2. The patient was a 36-year-old woman who suffered from paroxysmal carpopedal spasms for ten years. Before treatment, the serum calcium and phosphorus was 1.48 mmol/L and 2.29 mmol/L, respectively.Parathyroid hormonel (PTH) concentration was lower than 3.0 ng/L. Intracranial calcification and cataract were also identified. She developed hypercalciuria during treatment with calcium and vitamin D. She had no physical deformity or family history of hypoparathyroidism.
  
  
  CONCLUSIONS
  In this study, the genetic defect was only identified in 1 patient (5.9%). In adult-onset hypoparathyroidism without other diagnostic clues, the gene mutation screening as the first choice to clarify the etiology was not recommended.
authors.affiliation: Key Laboratory of Endocrinology of National Health And Family Planning Commission, Department of Endocrinology, Peking Union Medical College Hospital, Peking Union Medical College, Chinese Academy of Medical Sciences, Beijing 100730, China.
authors.forename: Y P
authors.initials: YP
authors.lastname: Li
authors.forename: O
authors.initials: O
authors.lastname: Wang
authors.forename: T T
authors.initials: TT
authors.lastname: Quan
authors.forename: W B
authors.initials: WB
authors.lastname: Xia
authors.forename: Y
authors.initials: Y
authors.lastname: Jiang
authors.forename: M
authors.initials: M
authors.lastname: Li
authors.forename: X W
authors.initials: XW
authors.lastname: Meng
authors.forename: X P
authors.initials: XP
authors.lastname: Xing
mesh_terms: D000328:Adult; D017668:Age of Onset; D044466:Asian People / Q000235:genetics; D002118:Calcium / Q000627:therapeutic use; D004252:DNA Mutational Analysis; D005260:Female; D050990:GATA3 Transcription Factor; D023281:Genomics / Q000379:methods*; D006720:Homozygote; D006801:Humans; D053565:Hypercalciuria / Q000139:chemically induced*; D007011:Hypoparathyroidism / Q000188:drug therapy / Q000208:ethnology / Q000235:genetics*; D008297:Male; D009154:Mutation; D010281:Parathyroid Hormone / Q000097:blood; D017422:Sequence Analysis, DNA; D013035:Spasm / Q000209:etiology; D014807:Vitamin D / Q000627:therapeutic use
chemical_list: D050990:GATA3 Transcription Factor; C494749:GATA3 protein, human; D010281:Parathyroid Hormone; D014807:Vitamin D; D002118:Calcium