Genetic analysis of Gitelman syndrome in a patient with recurrent spontaneous abortion / 中华内分泌代谢杂志
Chinese Journal of Endocrinology and Metabolism
;
(12): 333-336, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-870041
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Language:
Chinese
Journal:
Chinese Journal of Endocrinology and Metabolism
Year:
2020
Type:
Article
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