Yang Ke, Zhang Bing, Cui Shu-xian, Guo Qian-nan, Hou Qiao-fang, Li Qian-cheng, Liao Shi-xiu
Medical Genetics Institute of Henan Province, People's Hospital of Henan Province, People's Hospital of Zhengzhou University, Zhengzhou, Henan 450003, P. R. China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2013 Aug;30(4):439-42. doi: 10.3760/cma.j.issn.1003-9406.2013.04.013.
To analyze CYP17A1 gene mutations in a child patient with 17 alpha-hydroxylase/17, 20-lyase deficiency (17OHD), and to review characteristics of CYP17A1 gene mutations in Chinese patients with 17OHD.
Clinical data were collected. PCR and DNA sequencing were performed to detect mutations in the patient.
The patient has presented classical features of 17OHD including hypertension, hypokalemia, decreased sex hormones and plasma cortisol, and elevated blood adrenocorticotrophic hormone. A compound heterozygous mutation c.987C>A and c.985del was detected in the CYP17A1 gene, which resulted in two premature stop codons at positions 328 and 417.
A compound mutation, c.987C>A and c.985del, has been identified in a patient with 17OHD. Among CYP17A1 gene mutations identified in Chinese patients, missence mutations have been most common, and exons 5 and 8 have been the mutation hotspots.
分析1例17α-羟化酶/17,20-裂解酶缺陷症（17OHD）患儿的CYP17A1基因突变情况，并回顾中国17OHD患者的CYP17A1基因突变特征。
收集临床资料。采用聚合酶链反应（PCR）和DNA测序检测该患者的基因突变。
该患者呈现出17OHD的典型特征，包括高血压、低钾血症、性激素和血浆皮质醇降低以及血促肾上腺皮质激素升高。在CYP17A1基因中检测到复合杂合突变c.987C>A和c.985del，这导致在第328和417位出现两个提前终止密码子。
在1例17OHD患者中鉴定出复合突变c.987C>A和c.985del。在中国患者中鉴定出的CYP17A1基因突变中，错义突变最为常见，外显子5和8是突变热点。
