一例17α-羟化酶／17，20-碳链裂解酶缺陷症患儿的CYP17A1基因突变分析

Analysis of CYP17A1 gene mutation in a child patient with 17α-hydroxylase/17,20-1yase deficiency

目的对1例17α-羟化酶／17，20-碳链裂解酶缺陷症（ 17α-hydroxylase/17, 20-1yase deficiency, 17OHD）的患儿进行CYPI7A1基因突变分析，同时分析中国170HD患者的CYPI7A1基因突变特点。方法收集患者的临床资料，应用PCR和DNA测序技术对患者进行CYP17A1基因的突变检测。结果患者临床表现较典型：高血压、低血钾、性激素和皮质醇明显低于正常、促肾上腺皮质激素升高。患者的CYP17A1基因第6外显子上发现c．987C〉A（p．Y329X）以及c．985del（P．Y329TfsX89）复合杂合突变，分别生成包含328和417个氨基酸的截短蛋白。结论在患者的CYP17A1基因上发现了c．985del和c．987C〉A复合杂合突变。我国患者中最常见类型为错义突变，且集中于第6和第8外显子。

Objective To analyze CYP17A1 gene mutations in a child patient with 17a-hydroxylase/ 17,20-1yase deficiency （17OHD）, and to review characteristics of CYP17A1 gene mutations in Chinese patients with 17OHD. Methods Clinical data were collected. PCR and DNA sequencing were performed to detect mutations in the patient. Results 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 eodons at positions 328 and 417. Conclusion 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.