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Case Reports
. 2019 Jun 26;7(12):1522-1528.
doi: 10.12998/wjcc.v7.i12.1522.

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

Cheng-Lin Wang  1
Affiliations
Case Reports

Novel heterozygous missense mutation of SLC12A3 gene in Gitelman syndrome: A case report

Cheng-Lin Wang. World J Clin Cases. .

Abstract

Background: To screen for possible pathogenic loci in a patient with Gitelman syndrome by high-throughput exome sequencing and to explore the relationship between genotype and phenotype.

Case summary: The clinical data of the patient were collected. Peripheral blood samples were obtained to isolate white blood cells and extract genomic DNA. High-throughput whole exome sequencing for candidate pathogenic genes in the proband was completed by the Huada Gene Technology Co. Ltd (Shenzhen, China). Sequencing showed a novel heterozygous missense mutation (a G to A transition at nucleotide 2582) in exon 22 of the SLC12A3 gene, which resulted in a substitution of histidine for arginine at position 816 of the LRP1B protein and caused the occurrence of disease.

Conclusion: This is the first report of a new pathogenic mutation in SLC12A3. Further functional studies are particularly necessary to explore potential molecular mechanisms.

Keywords: Bioinformatics analysis; Case report; Gitelman syndrome; High-throughput sequencing; SLC12A3.

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Conflict of interest statement

Conflict-of-interest statement: The authors have no conflicts of interest to declare.

Figures

Figure 1
Figure 1
Raw reads of exome sequencing.
Figure 2
Figure 2
Quality control results of exome sequencing.
Figure 3
Figure 3
Number of variants.
See this image and copyright information in PMC

References

    1. van der Merwe PD, Rensburg MA, Haylett WL, Bardien S, Davids MR. Gitelman syndrome in a South African family presenting with hypokalaemia and unusual food cravings. BMC Nephrol. 2017;18:38. - PMC - PubMed
    1. Chen Q, Wu Y, Zhao J, Jia Y, Wang W. A case of hypokalemia and proteinuria with a new mutation in the SLC12A3 Gene. BMC Nephrol. 2018;19:275. - PMC - PubMed
    1. Gu X, Su Z, Chen M, Xu Y, Wang Y. Acquired Gitelman syndrome in a primary Sjögren syndrome patient with a SLC12A3 heterozygous mutation: A case report and literature review. Nephrology (Carlton) 2017;22:652–655. - PMC - PubMed
    1. Chen Y, Zhang Z, Lin X, Pan Q, Zheng F, Li H. A novel compound heterozygous variant of the SLC12A3 gene in Gitelman syndrome pedigree. BMC Med Genet. 2018;19:17. - PMC - PubMed
    1. Xia MF, Bian H, Liu H, Wu HJ, Zhang ZG, Lu ZQ, Gao X. Hypokalemia, hypomagnesemia, hypocalciuria, and recurrent tetany: Gitelman syndrome in a Chinese pedigree and literature review. Clin Case Rep. 2017;5:578–586. - PMC - PubMed

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