title: Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.
abstract: BACKGROUND
  Congenital adrenal hyperplasia resulting from 17alpha-hydroxylase deficiency (17OHD) is a rare disorder associated with hypertension.
  
  
  METHODS
  We describe a phenotypically and hormonally affected female patient with 17OHD. DNA sequencing of her CYP17 gene revealed a maternal heterozygous mutation in exon 2 (R125Q) and a paternal heterozygous mutation in exon 8 (R416H). These are novel mutations in the CYP17 gene that completely eliminate enzyme activity.
  
  
  CONCLUSIONS
  Identification of novel mutations in the CYP17 gene is vital in understanding the molecular mechanisms of its deficiency and in providing additional information about the structure and enzymatic functions of P450c17.
authors.affiliation: Department of Pediatrics, Mount Sinai School of Medicine, 1 Gustave L. Levy Place, Box 1198, New York, NY 10029, USA.
authors.forename: Berrin
authors.initials: B
authors.lastname: Ergun-Longmire
authors.forename: Richard
authors.initials: R
authors.lastname: Auchus
authors.forename: Mahboubeh
authors.initials: M
authors.lastname: Papari-Zareei
authors.forename: Susan
authors.initials: S
authors.lastname: Tansil
authors.forename: Robert C
authors.initials: RC
authors.lastname: Wilson
authors.forename: Maria I
authors.initials: MI
authors.lastname: New
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
chemical_list: D013254:Steroid 17-alpha-Hydroxylase