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).


METHODS
Case report.


METHODS
A laboratory of endocrinology at a university hospital.


METHODS
One Chinese woman with 11β-OHD referred to our clinic was observed in our study.


METHODS
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.


METHODS
Molecular characterization of the CYP11B1 gene.


RESULTS
A novel missense mutation (p.R454C) in the CYP11B1 gene was identified in our patient.


CONCLUSIONS
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.
Wu
Chaoming
C
Department of Endocrinology, The Second Affiliated Hospital of Wenzhou Medical College, Wenzhou, People's Republic of China. wuchaoming2004@126.com
Zhou
Qi
Q
Wan
Lian
L
Ni
Li
L
Zheng
Chao
C
Qian
Yanying
Y
Jin
Jian
J
D000312:Adrenal Hyperplasia, Congenital / Q000000981:diagnostic imaging / Q000235:genetics; D000328:Adult; D044466:Asian People / Q000235:genetics*; D004252:DNA Mutational Analysis; D005260:Female; D006720:Homozygote; D006801:Humans; D020125:Mutation, Missense; D013252:Steroid 11-beta-Hydroxylase / Q000235:genetics*; D014057:Tomography, X-Ray Computed
D013252:Steroid 11-beta-Hydroxylase