title: Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.
abstract: BACKGROUND
  Partial 17a-hydroxylase/17,20 lyase deficiency (17OHD) is a rare subtype of 17OHD caused by CYP17 gene mutations.
  
  
  OBJECTIVE
  Five Chinese 46,XX patients and one family with partial 17OHD were genotyped.
  
  
  METHODS
  The five patients derived from different families and one of them had another patient in family. The diagnosis of partial 17OHD was established through clinical and laboratory characteristics in Peking Union Medical College Hospital, China, from 2000 to 2010.
  
  
  RESULTS
  Seven CYP17 gene mutations are identified from these patients. Among them, R449C and L209P are two novel missense mutations. Four patients are found to have a compound heterozygous mutations and one patient has only one mutation. The patients with family history are also found to have parent origin of gene mutations.
  
  
  CONCLUSIONS
  Two novel missense mutations in CYP1 7 are found in this study. Comparing with previous reports, the different combination of mutations may have various effects on the activities of the 17-hydroxylase and/or17,20-lyase.
authors.affiliation: Peking Union Medical College Hospital, Department of Obstetrics and Gynecology, Beijing, China.
authors.forename: Qinjie
authors.initials: Q
authors.lastname: Tian
authors.forename: Fengxia
authors.initials: F
authors.lastname: Yao
authors.forename: Yiwen
authors.initials: Y
authors.lastname: Zhang
authors.forename: Hung
authors.initials: H
authors.lastname: Tseng
authors.forename: Jinghe
authors.initials: J
authors.lastname: Lang
mesh_terms: D000312:Adrenal Hyperplasia, Congenital; D000328:Adult; D002681:China; D005260:Female; D005838:Genotype; D006579:Heterozygote; D006801:Humans; D009154:Mutation; D020125:Mutation, Missense; D016133:Polymerase Chain Reaction; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D013254:Steroid 17-alpha-Hydroxylase