title: A novel mutation in the N-terminal region of the CYP17A1 gene in a patient with 17 alpha-hydroxylase/17,20-lyase deficiency.
abstract: The deficiency of 17 alpha-hydroxylase/17,20-lyase causes a rare autosomal recessive disorder presenting with congenital adrenal insufficiency (CAH) and sexual infantilism. Both 17 alpha-hydroxylase and 17,20-lyase reactions are catalyzed by a single polypeptide, cytochrome P450c17 (CYP17), which is encoded by the CYP17A1 gene. We describe the clinical, hormonal, and molecular findings of a 33-yr-old patient presenting with primary amenorrhea, late onset hypertension, and hypokalemic myopathy. The molecular analysis of CYP17A1 revealed a novel homozygous missense mutation resulting in the substitution of arginine to lysine at the amino acid position 21 (p.R21L).
authors.affiliation: Internal Medicine Unit, S. Gennaro Hospital, Via San Gennaro dei Poveri 25, 80136 Napoli, Italy. vincenzo.nuzzo@libero.it
authors.forename: V
authors.initials: V
authors.lastname: Nuzzo
authors.forename: L
authors.initials: L
authors.lastname: Tauchmanova
authors.forename: R
authors.initials: R
authors.lastname: Brunetti-Pierri
authors.forename: A
authors.initials: A
authors.lastname: Zuccoli
authors.forename: G
authors.initials: G
authors.lastname: Lupoli
authors.forename: A
authors.initials: A
authors.lastname: Colao
authors.forename: N
authors.initials: N
authors.lastname: Brunetti-Pierri
mesh_terms: D000312:Adrenal Hyperplasia, Congenital / Q000201:enzymology / Q000235:genetics*; D000328:Adult; D000568:Amenorrhea / Q000235:genetics*; D019943:Amino Acid Substitution; D004252:DNA Mutational Analysis; D017931:DNA Primers / Q000737:chemistry / Q000235:genetics; D005260:Female; D006720:Homozygote; D006801:Humans; D006973:Hypertension / Q000235:genetics*; D007008:Hypokalemia / Q000235:genetics*; D009135:Muscular Diseases; D020125:Mutation, Missense / Q000235:genetics*; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics* / Q000378:metabolism
chemical_list: D017931:DNA Primers; C501892:CYP17A1 protein, human; D013254:Steroid 17-alpha-Hydroxylase