Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.
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.
Ergun-Longmire
Berrin
B
Department of Pediatrics, Mount Sinai School of Medicine, 1 Gustave L. Levy Place, Box 1198, New York, NY 10029, USA.
Auchus
Richard
R
Papari-Zareei
Mahboubeh
M
Tansil
Susan
S
Wilson
Robert C
RC
New
Maria I
MI
D000312:Adrenal Hyperplasia, Congenital / Q000235:genetics*; D000328:Adult; D005260:Female; D006801:Humans; D008297:Male; D009154:Mutation; D013254:Steroid 17-alpha-Hydroxylase / Q000235:genetics*
D013254:Steroid 17-alpha-Hydroxylase