A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report

被引：0
|
作者：
Xianxian Yuan
Lin Lu
Shi Chen
Jun Jiang
Xiangqing Wang
Zhihui Liu
Huijuan Zhu
Hui Pan
Zhaolin Lu
机构：
[1] Peking Union Medical College Hospital,Department of Endocrinology
[2] Chinese Academy of Medical Science and Peking Union Medical College,The Key Laboratory of Genome Sciences and Information, Beijing Institute of Genomics
[3] Key Laboratory of Endocrinology of National Health Commission of the People’s Republic of China,undefined
[4] Chinese Academy of Sciences,undefined
来源：
BMC Endocrine Disorders | / 18卷
关键词：
11β-hydroxylase deficiency; gene mutation; Iatrogenic Cushing’s syndrome;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
引用
收藏
相关论文
共 50 条
  • [1] A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
    Yuan, Xianxian
    Lu, Lin
    Chen, Shi
    Jiang, Jun
    Wang, Xiangqing
    Liu, Zhihui
    Zhu, Huijuan
    Pan, Hui
    Lu, Zhaolin
    [J]. BMC ENDOCRINE DISORDERS, 2018, 18
  • [2] A novel mutation in the CYP11B1 gene in a patient with 11β-hydroxylase deficiency
    Motaghedi, R
    Slowinska, B
    Cerami, B
    Cabrera, M
    New, MI
    Wilson, RC
    [J]. AMERICAN JOURNAL OF HYPERTENSION, 2004, 17 (05) : 79A - 79A
  • [3] Identification of seven novel CYP11B1 gene mutations in Chinese patients with 11β-hydroxylase deficiency
    Wang, Xiaojing
    Nie, Min
    Lu, Lin
    Tong, Anli
    Chen, Shi
    Lu, Zhaolin
    [J]. STEROIDS, 2015, 100 : 11 - 16
  • [4] Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
    Pattaranatcha Charnwichai
    Patra Yeetong
    Kanya Suphapeetiporn
    Vichit Supornsilchai
    Taninee Sahakitrungruang
    Vorasuk Shotelersuk
    [J]. BMC Endocrine Disorders, 16
  • [5] Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report
    Charnwichai, Pattaranatcha
    Yeetong, Patra
    Suphapeetiporn, Kanya
    Supornsilchai, Vichit
    Sahakitrungruang, Taninee
    Shotelersuk, Vorasuk
    [J]. BMC ENDOCRINE DISORDERS, 2016, 16
  • [6] Novel homozygous p.R454C mutation in the CYP11B1 gene leads to 11β-hydroxylase deficiency in a Chinese patient
    Wu, Chaoming
    Zhou, Qi
    Wan, Lian
    Ni, Li
    Zheng, Chao
    Qian, Yanying
    Jin, Jian
    [J]. FERTILITY AND STERILITY, 2011, 95 (03) : 1122.e3 - 1122.e6
  • [7] Case Report: A combination of chimeric CYP11B2/CYP11B1 and a novel p.Val68Gly CYP11B1 variant causing 11β-Hydroxylase deficiency in a Chinese patient
    Li, Jialin
    Zhang, Fenglan
    Xu, Miao
    Qiu, Hao
    Zhou, Cheng
    Li, Li
    Qin, Lan
    [J]. FRONTIERS IN ENDOCRINOLOGY, 2023, 14
  • [8] A Greek girl with 11 beta-hydroxylase deficiency due to compound heterozygosity for two novel mutations in CYP11B1 gene
    Marakaki, Chrisanthi
    Papadopoulou, Anna
    Karapanou, Olga
    Papadimitriou, Dimitrios T.
    Kleanthous, Kleanthis
    Papadimitriou, Anastasios
    [J]. ENDOCRINOLOGY DIABETES AND METABOLISM CASE REPORTS, 2015,
  • [9] Congenital adrenal hyperplasia due to 11-hydroxylase deficiency-Compound heterozygous mutations of a prevalent and two novel CYP11B1 mutations
    Gu, Chongjuan
    Tan, Hao
    Yang, Junbao
    Lu, Yilu
    Ma, Yongxin
    [J]. GENE, 2017, 626 : 89 - 94
  • [10] A novel CYP11B1 mutation in a Turkish patient with 11β-hydroxylase deficiency: An association with the severe hypokalemia leading to rhabdomyolysis
    Banu Sarer Yurekli
    Nilufer Ozdemir Kutbay
    Huseyin Onay
    Ilgin Yildirim Simsir
    Gokcen Unal Kocabas
    Mehmet Erdogan
    Sevki Cetinkalp
    Gokhan Ozgen
    Fusun Saygili
    [J]. Hormones, 2016, 15 : 300 - 302
12345