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

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.