Fertility and sterility · 2010
Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient.
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Wu Chaoming, Zhou Qi, Wan Lian, Ni Li, Zheng Chao, Qian Yanying, Jin Jian
Аннотация
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.
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.