Article
21-hydroxylase genotyping in Australasian patients with congenital adrenal hyperplasia.
Journal of pediatric endocrinology & metabolism : JPEM - 1 Feb 2009
Jeske Y W A, McGown I N, Harris M, Bowling F G, Choong C S Y, Cowley D M, Cotterill A M
Abstract excerpt
Mutations in CYP21 (21-hydroxylase) lead to congenital adrenal hyperplasia (CAH). We genotyped 26 probands with CAH by PCR-sequencing the entire CYP21 gene. 25/26 had homozygous or compound heterozygous mutations. The frequencies of mutations were similar to other populations with deletion/hybrid, I2 G splice and I172N the most common. Five patients with a I172N allele predicting simple-virilising CAH had a...
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