Two novel mutations found in a patient with 17α-hydroxylase enzyme deficiency

Berrin Ergun-Longmire, Richard Auchus, Mahboubeh Papari-Zareei, Susan Tansil, Robert C. Wilson, Maria I. New

Research output: Contribution to journalArticlepeer-review

25 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)4179-4182
Number of pages4
JournalJournal of Clinical Endocrinology and Metabolism
Volume91
Issue number10
DOIs
StatePublished - Oct 2006

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