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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

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