Congenital adrenal hyperplasia in a Nigerian child with a novel compound heterozygote mutation in CYP11B1

被引：7
|
作者：
Andrew, M.
Barr, M.
Davies, E.
Wallace, A. M.
Connell, J. M.
Ahmed, S. F. [1 ]
机构：
[1] Royal Hosp Sick Children, Dept Child Hlth, Bone & Endocrine Res Grp, Glasgow G3 8SJ, Lanark, Scotland
[2] Glasgow Cardiovasc Res Ctr, MRC, Blood Pressure Grp, Glasgow, Lanark, Scotland
[3] Glasgow Royal Infirm, Dept Clin Biochem, Glasgow G4 0SF, Lanark, Scotland
来源：
CLINICAL ENDOCRINOLOGY | 2007年 / 66卷 / 04期
关键词：
D O I：
10.1111/j.1365-2265.2007.02766.x
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
收藏
页码：602 / 603
页数：2
相关论文
共 50 条
  • [31] The combination of a novel 2 bp deletion mutation and p.D63H in CYP11B1 cause congenital adrenal hyperplasia due to steroid 11β-hydroxylase deficiency
    Long, Yang
    Han, Su
    Zhang, Xiangxun
    Zhang, Xiaojuan
    Chen, Tao
    Gao, Yun
    Tian, Haoming
    [J]. ENDOCRINE JOURNAL, 2016, 63 (03) : 301 - 310
  • [32] 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
  • [33] Two intronic variants of CYP11B1 and CYP17A1 disrupt mRNA splicing and cause congenital adrenal hyperplasia (CAH)
    Dai, Weiqian
    Zhang, Xia
    Liu, Huili
    Sun, Yu
    Fan, Yanjie
    Yu, Yongguo
    [J]. JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM, 2020, 33 (09): : 1225 - 1229
  • [34] Correction: Congenital adrenal hyperplasia due to 11-beta-hydroxylase deficiency: functional consequences of four CYP11B1 mutations
    Soara Menabò
    Seher Polat
    Lilia Baldazzi
    Alexandra E. Kulle
    Paul-Martin Holterhus
    Joachim Grötzinger
    Flaminia Fanelli
    Antonio Balsamo
    Felix G. Riepe
    [J]. European Journal of Human Genetics, 2020, 28 : 692 - 692
  • [35] Bilateral laparoscopic adrenalectomy for congenital adrenal hyperplasia with severe hypertension, resulting from two novel mutations in splice donor sites of CYP11B1
    Chabre, O
    Portrat-Doyen, S
    Chaffanjon, P
    Vivier, J
    Liakos, P
    Labat-Moleur, F
    Chambaz, E
    Morel, Y
    Defaye, G
    [J]. JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM, 2000, 85 (11): : 4060 - 4068
  • [36] Uniparental disomy of chromosome 8 leading to homozygosity of a CYP11B1 mutation in a patient with congenital adrenal hyperplasia: Implication for a rare etiology of an autosomal recessive disorder
    Matsubara, Keiko
    Kataoka, Naoki
    Ogita, Satoko
    Sano, Shinichiro
    Ogata, Tsutomu
    Fukami, Maki
    Katsumata, Noriyuki
    [J]. ENDOCRINE JOURNAL, 2014, 61 (06) : 629 - 633
  • [37] 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
  • [38] A Chinese patient with 11β-hydroxylase deficiency due to novel compound heterozygous mutation in CYP11B1 gene: a case report
    Xianxian Yuan
    Lin Lu
    Shi Chen
    Jun Jiang
    Xiangqing Wang
    Zhihui Liu
    Huijuan Zhu
    Hui Pan
    Zhaolin Lu
    [J]. BMC Endocrine Disorders, 18
  • [39] A novel chimeric CYP11B2/CYP11B1 combined with a new p.L340P CYP11B1 mutation in a patient with 11OHD: case report
    Duan, Lian
    Shen, Rufei
    Song, Lingyu
    Liao, Yong
    Zheng, Hongting
    [J]. BMC ENDOCRINE DISORDERS, 2018, 18
  • [40] Steroid 11-beta-hydroxylase deficiency caused by compound heterozygosity for a novel mutation, p.G314R, in one CYP11B1 allele, and a chimeric CYP11B2/CYP11B1 in the other allele
    Kuribayashi, I
    Nomoto, S
    Massa, G
    Oostdijk, W
    Wit, JM
    Wolffenbuttel, BHR
    Shizuta, Y
    Honke, K
    [J]. HORMONE RESEARCH, 2005, 63 (06) : 284 - 293
12345