一种新型的CYP17A1缺失导致一个土耳其家族中的类固醇酶17-羟化酶和17,20-裂解酶功能缺失，并阐明了CYP17A1基因的确切作用。
A novel CYP17A1 deletion causes a functional knockout of the steroid enzyme 17-hydroxylase and 17,20-lyase in a Turkish family and illustrates the precise role of the CYP17A1 gene.
作者信息
Camats Núria, Üstyol Ala, Atabek Mehmet Emre, Dick Bernhard, Flück Christa E
机构信息
Pediatric Endocrinology and Diabetology, Departments of Pediatrics and Clinical Research, University Children's Hospital Bern Bern, 3010, Switzerland.
School of Medicine, Department of Pediatrics, Division of Pediatric Endocrinology and Diabetes, Necmettin Erbakan University Konya, 42080, Turkey.
出版信息
Clin Case Rep. 2015 Oct;3(10):793-7. doi: 10.1002/ccr3.343. Epub 2015 Aug 26.
A novel homozygous long-range deletion of the CYP17A1 gene abolished protein expression and caused the severest form of 17-hydroxylase deficiency in one kindred of a Turkish family. The affected subjects presented with 46,XY sex reversal and 46,XX lack of pubertal development as well as severe hypertension.
在一个土耳其家庭的一个家族中，CYP17A1基因的一种新型纯合性长程缺失导致蛋白质表达缺失，并引发了最严重形式的17α-羟化酶缺乏症。受影响的个体表现为46,XY性反转、46,XX青春期发育缺失以及严重高血压。
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