Two Novel Complex Mutations of CYP21A2 Gene Causing Simple Virilizing 21-hydroxylase Deficiency
- VernacularTitle:两种新复合型CYP21A2突变致单纯男性化型21羟化酶缺陷症
- Author:
Xiaoli WANG
;
Nan ZHANG
;
Yuyan ZHAO
;
Xiaoguang SHI
;
Zhongyan SHAN
- Publication Type:Journal Article
- Keywords:
21-hydroxylase deficiency;
CYP21A2 gene;
gene mutation
- From:
Journal of China Medical University
2014;(5):396-400,406
- CountryChina
- Language:Chinese
-
Abstract:
Objective To investigate the clinical manifestations,laboratory findings and genetic characteristics of two cases with simple virilizing (SV)21-hydroxylase(21OHD). Methods Clinical manifestations and laboratory data were obtained. The promoter and coding areas of CYP21A2 gene were directly sequenced. In silico analysis were used to predict the function of mutations. Results Two patients presented severe virilism. The laboratory examinations showed that plasma ACTH,aldosterone,androstendione and testosterone were significantly increased compared with normal individuals. VCT scan showed hyperplasia of bilateral adrenal. Direct sequencing of CYP21A2 gene showed two complex mutations-H62L/V69L and I2g/10InsL,which were not reported previously. In silico analysis(Polyphen)showed the novel mutation V69L could probably damage the function of CYP21A2 protein. Conclusion The combined mutations,H62L/V69Land I2g/10InsL,could be associated with SV type 21-OHD phenotype.
