Genetic analysis of Gitelman syndrome in a patient with recurrent spontaneous abortion
10.3760/cma.j.cn311282-20190822-00336
- VernacularTitle:对一例Gitelman综合征伴反复自然流产患者的基因分析
- Author:
Qian YUAN
1
;
Huijuan YUAN
;
Ruizhi ZHENG
Author Information
1. 河南省人民医院内分泌代谢科，郑州 450003
- From:
Chinese Journal of Endocrinology and Metabolism
2020;36(4):333-336
- CountryChina
- Language:Chinese
-
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.
