title: Correlation between Pituitary Stalk Interruption Syndrome and Prokineticin Receptor 2 and Prokineticin 2 Mutations.
abstract: OBJECTIVE
  To analyze the correlation between pituitary stalk interruption syndrome (PSIS) and prokineticin receptor 2 (PROKR2) and prokineticin 2 (RROK2) mutations.
  
  
  METHODS
  PROKR2 and RROK2 genotypes were identified by multiplex polymerase chain reaction analysis with exon-flanking primers and by automated sequencing techniques with peripheral blood DNA samples from 59 patients with PSIS.
  
  
  RESULTS
  Of these 59 PSIS patients, 6 showed intragenic deletions at the PROKR2 locus. Of them, 5 patients exhibited intragenic subsititution of exon 2 (c.991G>A), and the remaining one patient exhibited intragenic subsititution of exon 2 (c.1057C>T). No PROK2 mutation was found in these PSIS patients.
  
  
  CONCLUSIONS
  PROKR2 may be the susceptibility gene of PSIS.
authors.affiliation: 1. Department of Endocrinology,Chinese PLA General Hospital,Beijing 100853,China; 2. Department of Endocrinology,the 264th Hospital of PLA,Taiyuan 030001,China.
authors.forename: Bai-yu
authors.initials: BY
authors.lastname: Han
authors.affiliation: Department of Endocrinology,Chinese PLA General Hospital,Beijing 100853,China.
authors.forename: Le-le
authors.initials: LL
authors.lastname: Li
authors.affiliation: Department of Endocrinology,Chinese PLA General Hospital,Beijing 100853,China.
authors.forename: Cheng-zhi
authors.initials: CZ
authors.lastname: Wang
authors.affiliation: Department of Endocrinology,Chinese PLA General Hospital,Beijing 100853,China.
authors.forename: Qing-hua
authors.initials: QH
authors.lastname: Guo
authors.affiliation: Department of Endocrinology,Chinese PLA General Hospital,Beijing 100853,China.
authors.forename: Zhao-hui
authors.initials: ZH
authors.lastname: Lv
authors.affiliation: Department of Endocrinology,Chinese PLA General Hospital,Beijing 100853,China.
authors.forename: Yi-ming
authors.initials: YM
authors.lastname: Mu
authors.affiliation: Department of Endocrinology,Chinese PLA General Hospital,Beijing 100853,China.
authors.forename: Jing-tao
authors.initials: JT
authors.lastname: Dou
mesh_terms: D005091:Exons; D005768:Gastrointestinal Hormones; D005838:Genotype; D006801:Humans; D009154:Mutation; D009479:Neuropeptides; D010900:Pituitary Diseases; D043562:Receptors, G-Protein-Coupled; D018000:Receptors, Peptide
chemical_list: D005768:Gastrointestinal Hormones; D009479:Neuropeptides; C423608:PROK2 protein, human; C470838:PROKR2 protein, human; D043562:Receptors, G-Protein-Coupled; D018000:Receptors, Peptide