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Two Novel Mutations Found in a Patient with 17-Hydroxylase Enzyme Deficiency

Department of Pediatrics (B.E.-L., S.T., R.C.W., M.I.N.), Mount Sinai School of Medicine, New York, New York 10029; and Department of Internal Medicine (R.A., M.P.-Z.), Division of Endocrinology and Metabolism, and Donald W. Reynolds Cardiovascular Clinical Research Center, University of Texas Southwestern Medical School, Dallas, Texas 75390

Address all correspondence and requests for reprints to: Maria I. New, M.D., Mount Sinai School of Medicine, Department of Pediatrics, 1 Gustave L. Levy Place, Box 1198, New York, NY 10029. E-mail: maria.new{at}mssm.edu.

Context: Congenital adrenal hyperplasia resulting from 17-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.

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