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A prevalent and three novel mutations in CYP11B1 gene identified in Chinese patients with 11-beta hydroxylase deficiency.

The Journal of steroid biochemistry and molecular biology - 1 Jan 2013

Zhang Manna, Liu Yanling, Sun Shouyue, Zhang Huijie, Wang Weiqing, Ning Guang, Li Xiaoying

Abstract excerpt

UNLABELLED: 11β-Hydroxylase deficiency (11β-OHD), caused by CYP11B1 mutations, is characterized by hyporeninemic, hypokalemic hypertension and hyperandrogenism. We identified a prevalent and three novel mutations of CYP11B1 gene in nine patients with classic 11β-OHD. SUBJECTS AND METHODS: Nine patients with 11β-OHD from unrelated families were recruited. The complications of 11β-OHD occurred in three patients who...

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PMID: 22964742
DOI: 10.1016/j.jsbmb.2012.08.011

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