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Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

机译：CYP11B1基因突变在11β-羟化酶缺乏症患者家庭中的剪接分析：病例报告

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摘要

BackgroundCongenital adrenal hyperplasia (CAH) due to steroid 11β-hydroxylase deficiency (11β-OHD) is a rare form of CAH associated with low renin hypertension, hypokalemia, hyperandrogenemia and ambiguous genitalia in affected females. Herein we describe the clinical, hormonal and molecular characteristics of two Uzbekistan siblings with 11β-OHD and analyze the effects of a splicing mutation.

机译：背景由于类固醇11β-羟化酶缺乏症（11β-OHD）导致的先天性肾上腺增生（CAH）是一种罕见形式的CAH，与受影响女性的低肾素高血压，低血钾，高雄激素血症和生殖器歧义有关。在这里，我们描述了两个具有11β-OHD的乌兹别克斯坦兄弟姐妹的临床，激素和分子特征，并分析了剪接突变的影响。

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期刊名称 BMC Endocrine Disorders
作者
Pattaranatcha Charnwichai; Patra Yeetong; Kanya Suphapeetiporn; Vichit Supornsilchai; Taninee Sahakitrungruang; Vorasuk Shotelersuk;
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作者单位

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年(卷),期 2016(16),-1
年度 2016
页码 37
总页数 7
原文格式 PDF
正文语种
中图分类基础医学;
关键词
CYP11B1 Splicing Mutation 11β-hydroxylase deficiency Congenital adrenal hyperplasia Case report;

机译：CYP11B1;剪接;突变;11β-羟化酶缺乏症;先天性肾上腺皮质增生;病例报告;

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1. Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report [J] . Pattaranatcha Charnwichai, Patra Yeetong, Kanya Suphapeetiporn, BMC Endocrine Disorders . 2016,第1期

机译：CYP11B1基因突变在11β-羟化酶缺乏症患者家庭中的剪接分析：病例报告
2. Two novel mutations in splice donor sites of CYP11B1 in congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency. [J] . Chabre O, Portrat-Doyen S, Vivier J, Endocrine Research . 2000,第4期

机译：由于11β-羟化酶缺乏症，先天性肾上腺增生中CYP11B1的剪接供体位点的两个新突变。
3. Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency [J] . Katja Dumic, Tony Yuen, Zorana Grubic, International journal of endocrinology . 2014,第Pta2期

机译：两种克罗地亚家族患者的两种新型CYP11B1基因突变，11β-羟化酶缺乏
4. Transcriptomic Analysis of CYP Genes in Rhizopus nigricans and Identification of the Steroid 11α-Hydroxylase Candidate Genes [C] . Jianguo Zhao, Pengcheng Sui, Ruijie Wang, International conference on applied biotechnology . 2018

机译：黑根霉CYP基因的转录组学分析及类固醇11α-羟化酶候选基因的鉴定
5. Diverse mechanisms of human genetic disease: Splice order determination in the COL1A2 gene. Effects that influence splice site mutations in osteogenesis imperfecta and a translocation disrupting SNRPN gene causes Prader-Willi syndrome. [D] . Kuslich, Christine D. 1999

机译：人类遗传疾病的多种机制：COL1A2基因的剪接顺序确定。影响成骨不全症中剪接位点突变和易位破坏SNRPN基因的效应会导致Prader-Willi综合征。
6. Two Novel CYP11B1 Gene Mutations in Patients from Two Croatian Families with 11β-Hydroxylase Deficiency [O] . Katja Dumic, Tony Yuen, Zorana Grubic, 2014

机译：来自两个克罗地亚家庭的11β-羟化酶缺乏症患者的两个新的CYP11B1基因突变。
7. Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report [O] . Pattaranatcha Charnwichai, Patra Yeetong, Kanya Suphapeetiporn, 2016

机译：CYP11B1基因突变在11β-羟化酶缺乏症患者家庭中的剪接分析：病例报告

Splicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report

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