在一名患有17α-羟化酶缺乏症的患者中发现了两种新的突变。
Two novel mutations found in a patient with 17alpha-hydroxylase enzyme deficiency.
作者信息
Ergun-Longmire Berrin, Auchus Richard, Papari-Zareei Mahboubeh, Tansil Susan, Wilson Robert C, New Maria I
机构信息
Department of Pediatrics, Mount Sinai School of Medicine, 1 Gustave L. Levy Place, Box 1198, New York, NY 10029, USA.
出版信息
J Clin Endocrinol Metab. 2006 Oct;91(10):4179-82. doi: 10.1210/jc.2006-0469. Epub 2006 Jul 18.
CONTEXT
Congenital adrenal hyperplasia resulting from 17alpha-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.
背景
由17α-羟化酶缺乏症（17OHD）导致的先天性肾上腺皮质增生症是一种与高血压相关的罕见疾病。
研究对象与方法
我们描述了一名在表型和激素方面受影响的17OHD女性患者。对其CYP17基因进行DNA测序发现，外显子2存在一个来自母亲的杂合突变（R125Q），外显子8存在一个来自父亲的杂合突变（R416H）。这些是CYP17基因中的新突变，可完全消除酶活性。
结论
鉴定CYP17基因中的新突变对于理解其缺乏的分子机制以及提供有关P450c17结构和酶功能的更多信息至关重要。
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