[1]王晓黎,白杨,李金慧,等.由POR基因的纯合型突变R457H所导致的POR缺陷症: 病例研究及文献回顾[J].国际内分泌代谢杂志,2017,37(03):213-216.[doi:10.3760/cma.j.issn.1673-4157.2017.03.019]
 Wang Xiaoli,Bai Yang,Li Jinhui,et al.Homozygous mutation of R457H in POR gene which cause P450 oxidoreductase deficiency: a case report and review of the literatures[J].International Journal of Endocrinology and Metabolism,2017,37(03):213-216.[doi:10.3760/cma.j.issn.1673-4157.2017.03.019]
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由POR基因的纯合型突变R457H所导致的POR缺陷症: 病例研究及文献回顾()
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《国际内分泌代谢杂志》[ISSN:1673-4157/CN:12-1383/R]

卷:
37
期数:
2017年03期
页码:
213-216
栏目:
病例报告
出版日期:
2017-05-20

文章信息/Info

Title:
Homozygous mutation of R457H in POR gene which cause P450 oxidoreductase deficiency: a case report and review of the literatures
作者:
王晓黎白杨李金慧刘静李亚彩关海霞
110001 沈阳,中国医科大学附属第一医院内分泌科,内分泌研究所,辽宁省内分泌疾病重点实验室
Author(s):
Wang Xiaoli Bai Yang Li Jinhui Liu Jing Li Yacai Guan Haixia.
Key Laboratory of Endocrine Diseases of Liaoning Province, Department of Endocrinology and Metabolism, Institute of Endocrinology, The First Affiliated Hospital, China Medical University, Shenyang 110001, China
DOI:
10.3760/cma.j.issn.1673-4157.2017.03.019

参考文献/References:

[1] Flück CE, Nicolo C, Pandey AV. Clinical, structural and functional implications of mutations and polymorphisms in human NADPH P450 oxidoreductase[J].Fundam Clin Pharmacol, 2007,21(4):399-410. DOI:10.1111/j.1472-8206.2007.00520.x.
[2] Pandey AV, Flück CE. NADPH P450 oxidoreductase: structure, function, and pathology of diseases[J].Pharmacol Ther,2013,138(2):229-254.DOI: 10.1016/j.pharmthera.2013.01.010.
[3] Flück CE, Tajima T, Pandey AV,et al. Mutant P450 oxidoreductase causes disordered steroidogenesis with and without Antley-Bixler syndrome[J].Nat Genet,2004,36(3):228-230. DOI:10.1038/ng1300.
[4] Tzetis M, Konstantinidou A, Sofocleous C,et al. Compound heterozygosity of a paternal submicroscopic deletion and a maternal missense mutation in POR gene: Antley-bixler syndrome phenotype in three sibling fetuses[J].Birth Defects Res A Clin Mol Teratol,2016,106(7):536-541.DOI: 10.1002/bdra.23492.
[5] Krone N, Reisch N, Idkowiak J,et al. Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency[J].J Clin Endocrinol Metab,2012,97(2):E257-E267. DOI: 10.1210/jc.2011-0640.
[6] Flück CE, Mallet D, Hofer G,et al. Deletion of P399_E401 in NADPH cytochrome P450 oxidoreductase results in partial mixed oxidase deficiency[J].Biochem Biophys Res Commun,2011,412(4):572-577. DOI: 10.1016/j.bbrc.2011.08.001.
[7] Sahakitrungruang T, Huang N, Tee MK,et al. Clinical, genetic, and enzymatic characterization of P450 oxidoreductase deficiency in four patients[J]. J Clin Endocrinol Metab,2009,94(12):4992-5000. DOI: 10.1210/jc.2009-1460.
[8] Fukami M, Nishimura G, Homma K,et al. Cytochrome P450 oxidoreductase deficiency: identification and characterization of biallelic mutations and genotype-phenotype correlations in 35 Japanese patients[J].J Clin Endocrinol Metab,2009,94(5):1723-1731. DOI: 10.1210/jc.2008-2816.
[9] Hershkovitz E, Parvari R, Wudy SA,et al. Homozygous mutation G539R in the gene for P450 oxidoreductase in a family previously diagnosed as having 17,20-lyase deficiency[J].J Clin Endocrinol Metab,2008,93(9):3584-3588. DOI: 10.1210/jc.2008-0051.
[10] Scott RR, Gomes LG, Huang N,et al. Apparent manifesting heterozygosity in P450 oxidoreductase deficiency and its effect on coexisting 21-hydroxylase deficiency[J].J Clin Endocrinol Metab,2007,92(6):2318-2322. DOI:10.1210/jc.2006-2345.
[11] Huang N, Pandey AV, Agrawal V,et al. Diversity and function of mutations in p450 oxidoreductase in patients with Antley-Bixler syndrome and disordered steroidogenesis[J].Am J Hum Genet,2005,76(5):729-749. DOI:10.1086/429417.
[12] Fukami M, Homma K, Hasegawa T,et al. Backdoor pathway for dihydrotestosterone biosynthesis: implications for normal and abnormal human sex development[J].Dev Dyn,2013,242(4):320-329. DOI: 10.1002/dvdy.23892.
[13] Idkowiak J, O'Riordan S, Reisch N,et al. Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency[J].J Clin Endocrinol Metab,2011,96(3):E453-E462. DOI: 10.1210/jc.2010-1607.
[14] Tomalik-Scharte D, Maiter D, Kirchheiner J,et al. Impaired hepatic drug and steroid metabolism in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency[J].Eur J Endocrinol,2010,163(6):919-924. DOI: 10.1530/EJE-10-0764.
[15] 茅江峰,伍学焱,聂敏,等. 第192例阴蒂增大-青春不发育-多囊卵巢-骨骼畸形[J]. 中华医学杂志,2009, 89(46): 3304-3306. DOI:10.3760/cma.j.issn.0376-2491.2009.46.016.
[16] 茅江峰,聂敏伸,高劲松,等. P450氧化还原酶缺陷症的临床表现和羊水穿刺产前诊断的意义[J]. 基础医学与临床,2013,33(1): 24-27.
[17] Pandey AV, Flück CE, Mullis PE. Altered heme catabolism by heme oxygenase-1 caused by mutations in human NADPH cytochrome P450 reductase[J].Biochem Biophys Res Commun,2010,400(3):374-378. DOI: 10.1016/j.bbrc.2010.08.072.

备注/Memo

备注/Memo:
通信作者:王晓黎,Email:wlittlepear@163.com
更新日期/Last Update: 2017-05-20