Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1

Eisuke Kondo; Akie Nakamura; Keiko Homma; Tomonobu Hasegawa; Takeshi Yamaguchi; Masahiko Narugami; Tetsuo Hattori; Hayato Aoyagi; Katsura Ishizu; Toshihiro Tajima

首页> 外文期刊>Endocrine journal >Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1

【24h】

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1

机译：一名日本醛固酮缺乏症1型患者的CYP11B2基因的两个新突变

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

Isolated hypoaldosteronism is a rare and occasionally life-threatening cause of salt wasting in infancy. A 2-month-old Japanese boy of unrelated parents was examined for failure to thrive and poor weight gain. Laboratory findings were hyponatremia, hyperkalemia, high plasma renin and low aldosterone levels. Spot urine analysis by gas chroma-tography-mass spectrometry (GC-MS) showed that urinary excretion of corticosterone metabolites was elevated. Whereas excretion of 18-hydroxycortricosterone metabolites was within the normal range, excretion of aldosterone metabolites was undetectable. The patient was therefore suspected to have aldosterone synthase deficiency type 1. Sequence analysis of CYP11B2, the gene encoding aldosterone synthase (CYP11B2), showed that the patient was a compound heterozygote for C.168G>A, p.W56X in exon 1 and C.1149OT, p.R384X in exon 7. p.W56X was inherited from his mother and p.R384X was from his father. Since both alleles contain nonsense mutations, a lack of CYP11B2 activity was speculated to cause his condition. To our knowledge, this is the first Japanese patient in which the molecular basis of aldosterone synthase deficiency type 1 has been clarified. This case also indicates that spot urinary steroid analysis is useful for diagnosis.

机译：孤立的醛固酮增多症是婴儿期食盐浪费的罕见原因，有时甚至危及生命。检查了一个2个月大的日本男孩，该男孩的父母没有亲戚，但没有and壮成长，体重增加不佳。实验室检查结果为低钠血症，高钾血症，血浆肾素高和醛固酮水平低。通过气相色谱-质谱法（GC-MS）进行的点尿分析表明，皮质酮代谢产物的尿排泄量增加。 18-羟基皮质酮代谢产物的排泄在正常范围内，而醛固酮代谢产物的排泄却无法检测到。因此，该患者被怀疑患有1型醛固酮合酶缺乏症。编码醛固酮合酶（CYP11B2）的基因CYP11B2的序列分析表明，该患者是外显子1和C中C.168G> A，p.W56X的复合杂合子。 .1149OT，外显子7中的p.R384X。p.W56X继承自他的母亲，p.R384X继承自他的父亲。由于两个等位基因均包含无意义的突变，因此推测CYP11B2活性不足会导致其病情。据我们所知，这是第一位阐明了醛固酮合酶缺乏症1型分子基础的日本患者。该病例还表明，尿中类固醇的现场分析对诊断很有用。

著录项

来源
《Endocrine journal》 |2013年第1期|51-55|共5页
作者
Eisuke Kondo; Akie Nakamura; Keiko Homma; Tomonobu Hasegawa; Takeshi Yamaguchi; Masahiko Narugami; Tetsuo Hattori; Hayato Aoyagi; Katsura Ishizu; Toshihiro Tajima;
展开▼
作者单位

Department of Pediatrics, Obihiro Kyoukai Hospital, Obihiro 080-0805, Japan;

Department of Pediatrics Hokkaido University School of Medicine, Sapporo 060-8638, Japan;

Central Clinical Laboratories, Keio University Hospital, Tokyo, 160-8582, Japan;

Department of Pediatrics , Keio University School of Medicine, Tokyo 160-8582, Japan;

Department of Pediatrics, Obihiro Kyoukai Hospital, Obihiro 080-0805, Japan;

Department of Pediatrics, Obihiro Kyoukai Hospital, Obihiro 080-0805, Japan;

Department of Pediatrics, Obihiro Kyoukai Hospital, Obihiro 080-0805, Japan;

Department of Pediatrics, Obihiro Kyoukai Hospital, Obihiro 080-0805, Japan;

Department of Pediatrics Hokkaido University School of Medicine, Sapporo 060-8638, Japan;

Department of Pediatrics, Hokkaido University School of Medicine, N15, W7, Sapporo 060-0835, Japan;

展开▼
收录信息美国《科学引文索引》(SCI);美国《化学文摘》(CA);
原文格式 PDF
正文语种 eng
中图分类
关键词
aldosterone; CYP11B2; mutations; urinary steroid profile;

机译：醛固酮CYP11B2;突变尿类固醇激素谱;

相似文献

外文文献
中文文献
专利

1. Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1 [J] . Akie Nakamura, Eisuke Kondo, Hayato Aoyagi, Endocrine journal . 2013,第1期

机译：一名日本醛固酮缺乏症1型患者的CYP11B2基因的两个新突变
2. Five novel mutations in CYP11B2 gene detected in patients with aldosterone synthase deficiency type I: Functional characterization and structural analyses. [J] . Nguyen HH, Hannemann F, Hartmann MF, Molecular genetics and metabolism . 2010,第4期

机译：I型醛固酮合酶缺乏症患者中检测到CYP11B2基因的五个新突变：功能表征和结构分析。
3. Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review [J] . Miao Hui, Yu Zhongxun, Lu Lin, Steroids: An International Journal . 2019,第期

机译：CYP11B2基因新型杂合酶突变的分析，导致先天性醛酮合成酶缺乏和文献综述
4. Mutation typing in patients with medium chainAcylCoA dehydrogenase deficiency (MCADD) andPCR based mutation screening in SIDS victims [C] . D. Krause, K. Jachau, K. Mohnike, International Society for Forensic Genetics . 2006

机译：中链酰基乙酰脱氢酶缺乏症（MCADD）突变筛查患者的突变敏感筛选
5. Adenylosuccinate lyases (ASL) from Bacillus subtilis and Homo sapiens: I. Evaluation of types of interactions in the subunit interface II. Studies of five point mutations and mutant ASL hybrids associated with ASL deficiency [D] . De Zoysa Ariyananda, Lushanti M. 2010

机译：来自枯草芽孢杆菌和智人的腺苷琥珀酸裂合酶（ASL）：I.亚基界面中相互作用类型的评估II。与ASL缺乏有关的五点突变和ASL杂种突变体的研究
6. Mutations in the human CYP11B2 (aldosterone synthase) gene causing corticosterone methyloxidase II deficiency. [O] . L Pascoe, K M Curnow, L Slutsker, 1992

机译：人类CYP11B2（醛固酮合酶）基因中的突变导致皮质酮甲基氧化酶II缺乏。
7. Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1 [O] . Eisuke Kondo, Akie Nakamura, Keiko Homma, 2013

机译：日本患者中CYP11B2基因的两种新突变1型患者1型

Two novel mutations of the CYP11B2 gene in a Japanese patient with aldosterone deficiency type 1

摘要

著录项

相似文献

相关主题

期刊订阅