title: Variations in the promoter of CYP21A2 gene identified in a Chinese patient with simple virilizing form of 21-hydroxylase deficiency.
abstract: OBJECTIVE
  The variations in the transcriptional regulatory regions of CYP21A2 were rarely investigated in patients with 21-hydroxylase deficiency (21-OHD). The present study aims to verify that the variations in the promoter of CYP21A2 relate to the classical form of 21OHD.
  
  
  METHODS
  CYP21A2 was screened for mutations in 20 patients with the simple virilizing form of 21OHD, including the promoter region. The transcriptional activities of the variants in the promoter were investigated using a dual-reporter luciferase assay system and electromobility gel shift assays.
  
  
  RESULTS
  The heterozygous variants -447 A > G, -443InsA, -306G > C, -295T > C, -294 A > C, -283 A > G, -281T > G, -210T > C, -199C > T, -196 A > T, -126C > T, -113G > A, -110T > C, -103 A > G and -4C > T in the promoter of CYP21A2 gene were identified in a patient with simple virilizing form of 21OHD. The transcriptional activities of the promoter with the variants were reduced to 50% of the wild type.
  
  
  CONCLUSIONS
  We speculated that the 15 variants in the promoter of CYP21A2 combined with a compound heterozygous mutation Q318X lead to a simple virilizing form of 21OHD.
authors.affiliation: Shanghai Clinical Center for Endocrine and Metabolic Diseases, Shanghai Key Laboratory of Endocrine Tumor, Shanghai Institute of Endocrinology and Metabolism, Rui-Jin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
authors.forename: Hui-Jie
authors.initials: HJ
authors.lastname: Zhang
authors.forename: Jun
authors.initials: J
authors.lastname: Yang
authors.forename: Man-Na
authors.initials: MN
authors.lastname: Zhang
authors.forename: Wei
authors.initials: W
authors.lastname: Zhang
authors.forename: Jian-Min
authors.initials: JM
authors.lastname: Liu
authors.forename: Wei-Qing
authors.initials: WQ
authors.lastname: Wang
authors.forename: Guang
authors.initials: G
authors.lastname: Ning
authors.forename: Xiao-Ying
authors.initials: XY
authors.lastname: Li
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000208:ethnology* / Q000235:genetics* / Q000378:metabolism; D002681:China; D005260:Female; D006579:Heterozygote; D006801:Humans; D009154:Mutation / Q000235:genetics*; D010641:Phenotype; D011401:Promoter Regions, Genetic / Q000235:genetics*; D013255:Steroid 21-Hydroxylase / Q000235:genetics / Q000378:metabolism*; D014770:Virilism / Q000208:ethnology / Q000235:genetics / Q000378:metabolism; D055815:Young Adult
chemical_list: C531510:CYP21A2 protein, human; D013255:Steroid 21-Hydroxylase