Genetic analysis of Gitelman syndrome in a patient with recurrent spontaneous abortion

Q4 Medicine

中华内分泌代谢杂志 Pub Date : 2020-04-25 DOI:10.3760/CMA.J.CN311282-20190822-00336

Q. Yuan, Huijuan Yuan, R. Zheng

引用次数: 0

Abstract

Sanger sequencing was applied to analyze the SLC12A3 gene of a patient with suspected Gitelman syndrome(GS) and recurrent spontaneous abortions, as well as for her parents. The results showed that a compound heterozygous mutation(c.1077C>G, c.2890C>T) was found in the proband, which led to the change of amino acid sequence(p.N359K, p.R964W). Among the family members, her mother was a single heterozygotes mutation carrier of c. 1077C>G(p.N359K) and her father had c. 2890C>T(p.R964W) heterozygotes.These results suggest that the GS may cause adverse pregnancy outcomes due to imbalance of internal environment, complex hormonal changes, and electrolyte abnormalities. The pregnancy management should be strengthened. Key words: Gitelman syndrome; SLC12A3 gene; Hypokalemia; Recurrent spontaneous abortion

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复发性自然流产患者Gitelman综合征的遗传分析

Sanger测序用于分析一名疑似Gitelman综合征（GS）和复发性自然流产患者及其父母的SLC12A3基因。结果表明，先证者存在复合杂合突变（c.1077C>G，c.2890C>T），导致氨基酸序列发生变化（p.N359K，p.R964W）。这些结果表明，由于内部环境失衡、复杂的激素变化和电解质异常，GS可能会导致不良妊娠结局。应加强妊娠管理。关键词：Gitelman综合征；SLC12A3基因；低钾血症；复发性自然流产

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来源期刊

中华内分泌代谢杂志 Medicine-Endocrinology, Diabetes and Metabolism

CiteScore

0.60

自引率

0.00%

发文量

7243

期刊介绍： The Chinese Journal of Endocrinology and Metabolism was founded in July 1985. It is a senior academic journal in the field of endocrinology and metabolism sponsored by the Chinese Medical Association. The journal aims to be the "Chinese broadcaster of new knowledge on endocrinology and metabolism worldwide". It reports leading scientific research results and clinical diagnosis and treatment experience in endocrinology and metabolism and related fields, as well as basic theoretical research that has a guiding role in endocrinology and metabolism clinics and is closely integrated with clinics. The journal is a core journal of Chinese science and technology (a statistical source journal of Chinese science and technology papers), and is included in Chinese and foreign statistical source journal databases such as the Chinese Science and Technology Papers and Citation Database, Chemical Abstracts, and Scopus.