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

doi:10.1016/j.fertnstert.2010.09.035

科研成果详情

名称	Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11 beta-hydroxylase deficiency in a Chinese patient
作者	Wu, Chaoming1; Zhou, Qi2; Wan, Lian 1; Ni, Li3; Zheng, Chao1; Qian, Yanying1; Jin, Jian1
发表期刊	FERTILITY AND STERILITY
语种	英语
原始文献类型	Editorial Material
关键词	11 beta-hydroxylase deficiency CYP11B1 gene mutation
其他关键词	CONGENITAL ADRENAL-HYPERPLASIA ; PHENOTYPE ; 21-HYDROXYLASE ; HYPERTENSION ; DISORDERS
摘要	Objective: To show mutational analysis for 11 beta-hydroxylase deficiency (11 beta-OHD). Design: Case report. Setting: A laboratory of endocrinology at a university hospital. Patient(s): One Chinese woman with 11 beta-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 11 beta-OHD. (Fertil Steril (R) 2011;95:1122.e3-e6. (c) 2011 by American Society for Reproductive Medicine.)
出版者	ELSEVIER SCIENCE INC
出版地	NEW YORK
ISSN	0015-0282
卷号	95
期号	3
DOI	10.1016/j.fertnstert.2010.09.035
页数	4
WOS类目	Obstetrics & Gynecology ; Reproductive Biology
WOS研究方向	Obstetrics & Gynecology ; Reproductive Biology
WOS记录号	WOS:000287480300066
收录类别	SCIE
发布日期	2011-03
自定义期刊分类	T3(B)类
TOP期刊	TOP期刊
引用统计	被引频次：10[WOS] [WOS记录] [WOS相关记录]
文献类型	其他
条目标识符	https://kms.wmu.edu.cn/handle/3ETUA0LF/32882
专题	第二临床医学院、附属第二医院、育英儿童医院附属第二医院附属第一医院附属第二医院_内分泌科附属第一医院_内分泌科第二临床医学院、附属第二医院、育英儿童医院_临床检验诊断学
通讯作者	Wu, Chaoming
作者单位	1.Wenzhou Med Coll, Affiliated Hosp 2, Dept Endocrinol, Wenzhou 325027, Zhejiang, Peoples R China; 2.Wenzhou Med Coll, Affiliated Hosp 1, Dept Endocrinol, Wenzhou, Peoples R China; 3.Wenzhou Med Coll, Affiliated Hosp 2, Dept Clin Lab, Wenzhou, Peoples R China
第一作者单位	附属第二医院; 第二临床医学院，附属第二医院、育英儿童医院; 内分泌科
推荐引用方式 GB/T 7714	Wu, Chaoming,Zhou, Qi,Wan, Lian,et al. Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11 beta-hydroxylase deficiency in a Chinese patient. 2011.