Two novel mutations found in a patient with 17α-hydroxylase enzyme deficiency
Two novel mutations found in a patient with 17α-hydroxylase enzyme deficiency
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DOI：
10.1210/jc.2006-0469
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发表时间：
2006-10-01
影响因子：
5.8
通讯作者：
New, Maria I.
中科院分区：
文献类型：
--
作者：
Ergun-Longmire, Berrin;Auchus, Richard;New, Maria I.
内容：先天性肾上腺皮质增生导致的17 α-羟化酶缺乏症（17 OHD）是一种罕见的疾病与hypertension.Subject和方法：我们描述了一个表型和marqually影响女性患者17 OHD。她的CYP 17基因的DNA测序显示，在外显子2（R125 Q）和外显子8（R416 H）的父亲杂合突变的母亲杂合突变。这些都是新的突变的CYP 17基因，完全消除酶activity.Conclusion：识别新的突变的CYP 17基因是至关重要的，在了解其缺陷的分子机制，并在提供更多的信息P450 C17的结构和酶功能。
Context: Congenital adrenal hyperplasia resulting from 17 alpha-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.