Whole-exome sequencing in diagnosing 2 cases of Gitelman syndrome.
10.11817/j.issn.1672-7347.2022.190698
- Author:
Rongrong XIE
1
;
Ping JIN
2
;
Youbo YANG
2
;
Qin ZHANG
2
;
Jing XIONG
3
Author Information
1. Department of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. 364692626@qq.com.
2. Department of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China.
3. Department of Endorcrinology, Third Xiangya Hospital, Central South University, Changsha 410013, China. 1260639347@qq.com.
- Publication Type:Journal Article
- Keywords:
Gitelman syndrome;
SLC12A3;
hypokalemia;
whole-exome sequencing
- MeSH:
Genetic Testing;
Gitelman Syndrome/genetics*;
Humans;
Mutation;
Pedigree;
Solute Carrier Family 12, Member 3/genetics*;
Whole Exome Sequencing
- From:
Journal of Central South University(Medical Sciences)
2022;47(3):401-406
- CountryChina
- Language:English
-
Abstract:
Two patients with Gitelman syndrome were admitted to the Department of Endocrinology, Third Xiangya Hospital of Central South University. The genomic DNA from the patients' peripheral blood was extracted and the whole-exome sequencing was performed to detect the possible mutations. The function of the mutation sites was analyzed by bioinformatics software. Through whole-exome sequencing and Sanger sequencing, we have found that 2 patients with Gitelman syndrome carried compound heterozygous mutations of SLC12A3 gene, which were c.486_490delTACGGinsA, p.R943W, p.D486N, and p.R928C. Among them, c.486_490delTACGGinsA insertion deletion mutation causes frame shift and protein truncation. The p.R943W, p.D486N, and p.R928C of SLC12A3 gene were predicted to be pathogenic mutations by SIFT, PolyPhen2, and Mutation Taster. These 4 mutations were all reported, but p.R943W was first reported in Chinese population. Gitelman syndrome is rare in clinic and the rate of missed diagnosis is high. Early genetic analysis in patients with Gitelman syndrome is helpful to determine the etiology and guide the treatment.
