Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient

Abstract

Mei Zhong,1,* Zhenwei Zhai,2,* Xing Zhou,1 Jingxia Sun,1 Hui Chen,1 Wensheng Lu1 1Department of Endocrinology, The Peoples Hospital of Guangxi Zhuang Autonomous Region, Guangxi, People’s Republic of China; 2Department of Endocrinology, Tongde Hospital of Yuncheng, Changzhi Medical College, Shanxi, People’s Republic of China*These authors contributed equally to this workCorrespondence: Wensheng Lu Tel [phone]Email [email protected]: Gitelman syndrome (GS) is an autosomal recessive disorder characterized by hypokalemic metabolic alkalosis. In this study, we investigated the clinical presentation and sequenced 26 exons of SLC12A3 gene in a patient with a clinical suspicion of GS.Methods: Clinical work-up including clinical examination, electrocardiography (ECG), chest X-ray, bone mineral density (BMD), and ultrasound examination was conducted and all exons of SLC12A3 gene were analyzed by whole-exome sequencing.Results: The patient showed hypokalemia, hypomagnesemia, and metabolic alkalosis and was found to have four novel homozygous missense mutations including one known mutation (c.1456 G>A in exon 12) and three novel mutations (c.366A > G in exon 2, c.791C > G in exon 6 and c.1027C > T in exon 8).Conclusion: Four mutation sites of SLC12A3 gene were found in the patient, three of which have not been reported before. These results may be useful for better understanding the function of this gene and can assist clinicians with treatment decision-making.Keywords: Gitelman syndrome, clinical characteristics, SLC12A3 gene, exome sequencing, gene mutation

Keywords

• gitelman syndrome
• clinical characteristics
• slc12a3 gene
• exome sequencing
• gene mutation