TY - JOUR
T1 - Two novel mutations found in a patient with 17α-hydroxylase enzyme deficiency
AU - Ergun-Longmire, Berrin
AU - Auchus, Richard
AU - Papari-Zareei, Mahboubeh
AU - Tansil, Susan
AU - Wilson, Robert C.
AU - New, Maria I.
N1 - Funding Information:
This work was supported by National Institutes of Health Grants HD 00072, Rare Disease Grant RR19484 (to M.I.N.), and R21DK059942 (to R.A.).
PY - 2006/10
Y1 - 2006/10
N2 - Context: Congenital adrenal hyperplasia resulting from 17α- hydroxylase deficiency (17OHD) is a rare disorder associated with hypertension. Subject and 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. Conclusion: 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.
AB - Context: Congenital adrenal hyperplasia resulting from 17α- hydroxylase deficiency (17OHD) is a rare disorder associated with hypertension. Subject and 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. Conclusion: 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.
UR - http://www.scopus.com/inward/record.url?scp=33749553506&partnerID=8YFLogxK
U2 - 10.1210/jc.2006-0469
DO - 10.1210/jc.2006-0469
M3 - Article
C2 - 16849412
AN - SCOPUS:33749553506
SN - 0021-972X
VL - 91
SP - 4179
EP - 4182
JO - Journal of Clinical Endocrinology and Metabolism
JF - Journal of Clinical Endocrinology and Metabolism
IS - 10
ER -