Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Abstract

We present an in vivo and in vitro study of congenital adrenal hyperplasia in a patient with 11beta-hydroxylase deficiency. Genetic analysis showed two new base substitutions of CYP11B1, a conservative transition at the last base of exon 5, and a IVS8+4A-->G transition in intron 8. Difficulties with suppressive therapy resulted in severe hypertension. A… (More)

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Cite this paper

@article{Chabre2000TwoNM, title={Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.}, author={Olivier Chabre and St{\'e}phanie Portrat-Doyen and J. Vivier and Yves G. Morel and Genevi{\`e}ve Defaye}, journal={Endocrine research}, year={2000}, volume={26 4}, pages={797-801} }