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Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient

2010; Elsevier BV; Volume: 95; Issue: 3 Linguagem: Inglês

10.1016/j.fertnstert.2010.09.035

1556-5653

Chaoming Wu, Qi Zhou, Lian Wan, Li Ni, Chao Zheng, Yanying Qian, Jian Jin,

Hormonal Regulation and Hypertension

Objective To show mutational analysis for 11β-hydroxylase deficiency (11β-OHD). Design Case report. Setting A laboratory of endocrinology at a university hospital. Patient(s) One Chinese woman with 11β-OHD referred to our clinic was observed in our study. Intervention(s) Genomic DNA was extracted from peripheral blood leukocytes, and coding sequence abnormalities of the CYP11B1 gene were assessed by polymerase chain reaction and then direct sequencing analysis. Main Outcome Measure(s) Molecular characterization of the CYP11B1 gene. Result(s) A novel missense mutation (p.R454C) in the CYP11B1 gene was identified in our patient. Conclusion(s) Our study identified one novel mutation in the CYP11B1 gene. The expanded mutation database should benefit patients in the diagnosis and treatment of 11β-OHD.