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: V Nuzzo, L Tauchmanova, R Brunetti-Pierri, A Zuccoli, G Lupoli, A Colao, N Brunetti-Pierri
• Journal: Journal of endocrinological investigation (J Endocrinol Invest) Vol. 32 Issue 4 Pg. 322-4 (Apr 2009) ISSN: 1720-8386 [Electronic] Italy
• PMID: 19636199 (Publication Type: Case Reports, Journal Article)

Chemical References

• DNA Primers
• CYP17A1 protein, human
• Steroid 17-alpha-Hydroxylase

Topics

• Adrenal Hyperplasia, Congenital (enzymology, genetics)
• Adult
• Amenorrhea (genetics)
• Amino Acid Substitution
• DNA Mutational Analysis
• DNA Primers (chemistry, genetics)
• Female
• Homozygote
• Humans
• Hypertension (genetics)
• Hypokalemia (genetics)
• Muscular Diseases
• Mutation, Missense (genetics)
• Steroid 17-alpha-Hydroxylase (genetics, metabolism)