Article
CYP17A1 intron mutation causing cryptic splicing in 17α-hydroxylase deficiency.
PloS one - 1 Jan 2011
Hwang Daw-Yang, Hung Chi-Chih, Riepe Felix G, Auchus Richard J, Kulle Alexandra E, Holterhus Paul-Martin, Chao Mei-Chyn, Kuo Mei-Chuan, Hwang Shang-Jyh, Chen Hung-Chun
Abstract excerpt
17α-Hydroxylase/17, 20-lyase deficiency (17OHD) is an autosomal recessive disease causing congenital adrenal hyperplasia and a rare cause of hypertension with hypokalemia. The CYP17A1 gene mutation leads to 17OHD and its clinical features. We described an 18 y/o female with clinical features of 17α-hydroxylase/17, 20-lyase deficiency and characterized the functional consequences of an intronic CYP17A1 mutation....
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