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

► The enzymatic activities for mutants were almost completely abolished, which are in agreement with classic form of 11β-OHD. ► Haplotype analysis showed that the p.R454C mutation (five of nine patients) might be inherited from a common ancestor. ► Early diagnosis and treatment are the keys to prevent most co-morbidities.