Article
21-hydroxylase deficiency-induced congenital adrenal hyperplasia in 230 Chinese patients: Genotype-phenotype correlation and identification of nine novel mutations.
Steroids - 1 Apr 2016
Wang Ruifang, Yu Yongguo, Ye Jun, Han Lianshu, Qiu Wenjuan, Zhang Huiwen, Liang Lili, Gong Zhuwen, Wang Lili, Gu Xuefan
Abstract excerpt
Steroid 21-hydroxylase deficiency (21-OHD) caused by the CYP21A2 gene mutations accounts for more than 90% of congenital adrenal hyperplasia (CAH) cases. In this study, molecular defects of 230 patients with 21-OHD were investigated. Point mutations of CYP21A2 gene were analyzed by Sanger sequencing, and large gene deletions were detected by multiplex ligation-dependent probe amplification (MLPA). Nine...
Topics
- Adolescent
- Adrenal Hyperplasia, Congenital
- Asian People
- Child
- Child, Preschool
- Female
- Genotype
- Humans
- Infant
- Infant, Newborn
- Male