五个中国 46XX 部分 17a-羟化酶/17,20-裂合酶缺陷患者的分子研究。
Molecular study of five Chinese patients with 46XX partial 17a-hydroxylase/17,20-lyase deficiency.
机构信息
Peking Union Medical College Hospital, Department of Obstetrics and Gynecology, Beijing, China.
出版信息
Gynecol Endocrinol. 2012 Mar;28(3):234-8. doi: 10.3109/09513590.2011.593665. Epub 2011 Aug 16.
CONTEXT
Partial 17a-hydroxylase/17,20 lyase deficiency (17OHD) is a rare subtype of 17OHD caused by CYP17 gene mutations.
OBJECTIVE
Five Chinese 46,XX patients and one family with partial 17OHD were genotyped.
PATIENTS
The five patients derived from different families and one of them had another patient in family. The diagnosis of partial 17OHD was established through clinical and laboratory characteristics in Peking Union Medical College Hospital, China, from 2000 to 2010.
RESULTS
Seven CYP17 gene mutations are identified from these patients. Among them, R449C and L209P are two novel missense mutations. Four patients are found to have a compound heterozygous mutations and one patient has only one mutation. The patients with family history are also found to have parent origin of gene mutations.
CONCLUSION
Two novel missense mutations in CYP1 7 are found in this study. Comparing with previous reports, the different combination of mutations may have various effects on the activities of the 17-hydroxylase and/or17,20-lyase.
背景
17α-羟化酶/17,20 裂合酶缺陷症（17OHD）是由 CYP17 基因突变引起的罕见的 17OHD 亚型。
目的
对 5 例中国 46,XX 患者和 1 个家系的部分 17OHD 患者进行基因分型。
患者
这 5 例患者来自不同的家系，其中 1 例患者的家系中还有另 1 例患者。部分 17OHD 的诊断是在北京协和医院通过临床和实验室特征在 2000 年至 2010 年期间确立的。
结果
从这些患者中鉴定出 7 种 CYP17 基因突变。其中，R449C 和 L209P 是两种新的错义突变。4 例患者存在复合杂合突变，1 例患者仅存在 1 种突变。有家族史的患者也发现存在基因突变的亲源性。
结论
本研究发现 CYP17 中的 2 种新的错义突变。与以往的报道相比，不同的突变组合可能对 17-羟化酶和/或 17,20-裂合酶的活性有不同的影响。
Zotero 插件