title: Rare hypertension as a result of 17alpha-hydroxylase deficiency.
abstract: OBJECTIVE
  To investigate CYP 7A1 gene mutations in Chinese patients with 17alpha-hydroxylase deficiency.
  
  
  METHODS
  Clinical data were retrospectively analyzed. CYP17A1 mutations were detected in two cases with 17alpha-hydroxylase deficiency. Genomic DNA was isolated from blood samples and eight primers pairs were used to amplify eight exons and exon-intron boundaries of the CYP17A1 gene. The amplified PCR products were purified by agarose gel electrophoresis and then directly sequenced. Sequencing results were compared to the established human CYP17A1 sequence.
  
  
  RESULTS
  Two compound mutations were identified: TAC --> AA at codons 436-438 on exon 6, causing the amino acid missense mutation Y329K/418X; and deletion of the 9-bp sequence GACTCTTTC at codons 487-489 on exon 8, causing deletion of three amino acids (Asp-Ser-Phe).
  
  
  CONCLUSIONS
  D487_F489del and Y329K, 418X CYP17A1 mutations were identified in our two patients. A literature review revealed that the main CYP17A1 mutations in the Chinese population are missense and splicing defects, and exons 8 and 6 are most frequently involved.
authors.affiliation: Children's Hospital, Zhejiang University School of Medicine, Zhugan Xiang 57, Hangzhou 310003, P.R. China.
authors.forename: Wei
authors.initials: W
authors.lastname: Wang
authors.forename: Jun-Fen
authors.initials: JF
authors.lastname: Fu
authors.forename: Fang-Qi
authors.initials: FQ
authors.lastname: Gong
authors.forename: Wei-Hua
authors.initials: WH
authors.lastname: Zhu
authors.forename: Zheng
authors.initials: Z
authors.lastname: Shen
mesh_terms: D000293:Adolescent; D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics; D001483:Base Sequence; D002648:Child; D005260:Female; D056726:Genetic Association Studies; D006801:Humans; D006973:Hypertension / Q000201:enzymology* / Q000235:genetics*; D008297:Male; D009154:Mutation; D020125:Mutation, Missense; D017384:Sequence Deletion; D050035:Sexual Infantilism / Q000201:enzymology / Q000235:genetics; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase