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Molecular complexity analysis of the diagnosis of Gitelman syndrome in China

  • Wei Song , Yue Hu , Ling Zhao , Jinming Zhang , Yu Zhang and Jianxuan Wen EMAIL logo
Published/Copyright: June 20, 2023
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Open Life Sciences
From the journal Open Life Sciences Volume 18 Issue 1

Abstract

Gitelman syndrome (GS) is an autosomal recessive renal tubal disease characterized by hypomagnesemia, hypokalemia, and hypocalciuria. The disease is caused by defects in the SLC12A3 gene, which encodes the thiazide diuretic-sensitive sodium chloride cotransporter (NCCT). In this study, a 20-year-old female patient with recurrent hypokalemia was tested for a hypokalemia-related panel using Next Generation Sequencing. Pedigree analysis was performed on her parents (non-consanguineous) and sister using Sanger sequencing. The results revealed that the patient carried compound heterozygous variants of the SLC12A3 gene: c.179C > T (p.T60M) and c.1001G > A (p.R334Q). Furthermore, her asymptomatic 6-year-old sister also carried both mutations. While the p.T60M mutation had been reported previously, the p.R334Q mutation was novel, and amino acid position 334 was identified as a mutation hotspot. Our findings provide an accurate molecular diagnosis that is essential for the diagnosis, counseling, and management of not only the symptomatic patient but also her asymptomatic sister. This study contributes to our understanding of the GS, which has a prevalence of approximately 1 in 40,000 and a heterozygous mutation carrier rate of 1% in Caucasians. Specifically, we observed a compound heterozygous mutation of the SLC12A3 gene in a 20-year-old female patient presenting with clinical symptoms consistent with GS.

Keywords: Gitelman syndrome; hypokalemia; SLC12A3

1 Introduction

Gitelman syndrome (GS) is also called familial hypokalemia and hypomagnesemia. The characteristic clinical features are hypokalemia, hypomagnesemia, hypocalciuria, metabolic alkalosis, and low or normal blood pressure, which was first described by Gitelman in 1966 [1]. It is an autosomal recessive renal tubal disease with a prevalence of about 1 in 40,000 [2], and the heterozygous mutation carrier rate in Caucasians is 1% [3]. It is the most common salt-loss renal tubular genetics disease [4]. Most patients are onset at youngster or adult stage, but some can also occur during childhood. In addition to fatigue, weakness, and other clinical manifestations of low-potassium, other symptoms are mild, or unrecognized. A small number of patients may have low-magnesium symptoms like facial numbness and seizures, especially onset after fever, vomiting, and diarrhea.

GS is caused by mutation in the SLC12A3 gene encoding the thiazide diuretic-sensitive sodium chloride cotransporter (NCCT) [5]. The SLC12A3 gene contains 26 exons and encodes 1,030 amino acids. It encodes the distal tubular thiazide diuretic sensitive ion channel NCCT [6]. The NCCT protein is comprised of various regions, including the transmembrane region, intracellular carboxyl terminus, and extracellular hydrophobic ring region. It is primarily expressed in the parietal membrane of the lumen epithelial cells of the distal convoluted tubule (DCT), which is responsible for reabsorbing approximately 7% of the total sodium chloride filtered through the glomeruli. When NCCT dysfunction occurs, the DCT is unable to effectively reabsorb sodium, leading to increased urinary sodium excretion, decreased blood volume, and subsequently decreased blood pressure. Moreover, this dysfunction can activate the renin-angiotensin system, resulting in a reduction in potassium and metabolic alkalosis [7]. The decrease in urinary calcium may be related to the decrease in intracellular hyperpolarization and the increase in resorption due to abnormal combined transport. Hypomagnesemia is one of the characteristics of GS which is different from Batter Syndrome, but its mechanism is still unclear [3]. In GS patients, the mutated gene may be downregulated urinary magnesium production, leading to hypomagnesemia [8]. In addition, the role of aldosterone in the formation of lumen side negative potential may also contribute to increased urinary magnesium and decreased blood magnesium, as it increases Na+/Mg2+ exchange. Despite more than 400 reported mutations in the SLC12A3 gene, only one mutant allele is typically identified after SLC12A3 screening in 18–40% of patients presenting with clinical symptoms of GS.

2 Case Presentation

2.1 Medical history

The patient is a 20-year-old female who has been experiencing recurrent limb weakness, paroxysmal paralysis, and hypokalemia since the age of 16. Her blood potassium levels were found to be low, but symptoms resolved after potassium supplementation. At 18, she was hospitalized due to limb weakness, and again low blood potassium levels were identified, but her blood pressure, thyroid function, renin-angiotensin-aldosterone, and adrenal CT enhanced scan were all normal. She was prescribed potassium chloride tablets, which effectively treated her symptoms, and experienced recurrent episodes of the same symptoms which were again resolved with potassium supplementation.

Six days before admission, the patient once again exhibited limb weakness and spasms, accompanied by palpitations, with a measured blood potassium level of 2.15 mmol/L. The electrocardiogram showed sinus tachycardia and normal blood pressure. She denied experiencing nausea, vomiting, recurrent abdominal pain, diarrhea, polyuria, polydipsia, and had no history of taking diuretics or other drugs. Her diet, sleep, and development were normal, and there was no family history of similar diseases. Both her parents and her 6-year-old sister were healthy.

The patient’s physical examination revealed no abnormalities in her heart, lungs, or abdomen, and the Trousseau sign and Chvostek sign were negative. Blood tests showed that her potassium level was 2.46–3.39 mmol/L, magnesium level was 0.32–0.37 mmol/L, chlorinate level was 141 mmol/L, chlorine level was 97.6 mmol/L, calcium level was 2.47 mmol/L, and phosphorus level was 1.260 mmol/L. Additionally, we performed a 24 h urine test to measure potassium, magnesium, chlorine, sodium, and calcium levels, which indicated renal potassium loss. Sex hormone results were as follows: TSTO 1.79 nmol/L; FSH, LH, PRG, and E2 were within normal limits. Blood gas analysis showed a pH of 7.581, PaO2 of 113 mmHg, PaCO2 of 27.3 mmHg, HCO3− of 26.6 mmol/L, and a base excess of 4.7 mmol/L. Thyroid function, blood cortisol, and adrenocorticotropic hormone, liver and kidney function, renin-angiotensinaldosterone function, adrenal enhancement CT, abdominal color Doppler ultrasonography, urinary color Doppler ultrasonography, and electrocardiogram were all normal.

  1. Informed consent: Informed consent has been obtained from all individuals included in this study.

  2. Ethical approval: The research related to human use has been complied with all the relevant national regulations, institutional policies, and in accordance with the tenets of the Helsinki Declaration, and has been approved by the Ethics Committee of Guangdong Provincial Hospital of Chinese Medicine.

2.2 Clinical material collection

During hospitalization in our department, the patient underwent a series of tests, including blood tests such as blood routine, blood potassium, blood sodium, blood chlorine, blood magnesium, blood calcium, blood phosphorus, liver and kidney function, heart enzyme levels, blood gas analysis, blood cortisol and adrenal cortical hormone rhythms, sex hormones, growth hormone, and high blood pressure (aldosterone, renin activity, angiotensin); urine tests such as 24 h urine (potassium, sodium, chlorine, magnesium, calcium, and phosphorus) and urine routine; and other examinations such as ECG, DR chest radiograph, and kidney + adrenal CT scan + enhancement.

2.3 Target capture and sequencing

2–5 mL blood samples from the patient were collected in EDTA-coated tubes. DNA was extracted using SolPure Blood DNA kit (Magen). Hypokalemia panel was performed using next generation sequencing (NGS). Briefly, DNA was fragmented by Q800R Sonicator (Qsonica) to 300–500 bp size fragments. The libraries were prepared according to Illumina library preparation protocol. Target genes were captured by custom designed NimbleGen SeqCap probes (Roche NimbleGen, Madison, Wisconsin). DNA samples were sequenced by NextSeq500 (Illumina, San Diego, California).

2.4 Bioinformatics analysis

In this study, sequencing data in FASTQ format underwent filtering to obtain “clean reads” which were then mapped to the human genome 19 (2009-02 release, http://genome.ucsc.edu/). Nucleotide changes were identified and reviewed with NextGENe 2.4.1.2 (SoftGenetics, State College, PA), while copy number variants were detected using eCNVscan software. Population databases such as 1000 Genomes, dbSNP, and GnomAD were used to annotate the variants, and previous articles were scrutinized with the Human Gene Mutation Database, Leiden Open Variation Database, ClinVar, and Google Scholar.

Computational prediction of variants was carried out using PolyPhen-2, SIFT, and MutationTaster, with interpretation of the variants being guided by the American College of Medical Genetics and Genomics (ACMG) guidelines.

2.5 Sanger sequencing

To verify the genetic variation identified in the patients’ relatives, Sanger sequencing was conducted. Primers were designed and synthesized specifically for the mutation, and genomic DNA was extracted from the blood samples. A specific PCR reaction system was used to amplify the targeted sequence containing the mutation, and the resulting PCR product was purified prior to Sanger sequencing. The peak results of the sequencing data were analyzed using the Mutation Surveyor analysis software.

2.6 Bioinformatics analysis

To analyze the protein structure and predict conservation and functional domains, we employed mutation prediction software such as PolyPhen-2 (http://genetics.bwh.harvard.edu/pph2/) and SIFT (http://sift.jcvi.org/www/SIFT_BLink_submit.html). Multiple sequence alignment was performed as well. Evolutionary conservation across species was assessed through CLUSTAL analysis (http://www.ebi.ac.uk/Tools/msa/clustal). Additionally, we used the self-optimized prediction method with alignment (SOPMA, https://prabi.ibcp.fr) to predict the secondary structure.

3 Results

3.1 Genetic testing results

NGS revealed two heterozygous variants of SLC12A3 gene, c.179C > T (p.T60M) and c.1001G > A (p.R334Q). Sanger sequencing showed that the variant c.179C > T (p.T60M) was inherited from the mother and c.1001G > A (p.R334Q) was inherited from the father. Therefore, the two variants constituted a compound heterozygous state. In addition, Sanger sequencing revealed that the patient’s 6-year-old sister also carried the same compound heterozygous mutations, but she did not show clinical manifestations since most GS patients were onset in youngster or adult stage only (Figure 1).

Figure 1 Genetic testing results of patient’s pedigree.
Figure 1

Genetic testing results of patient’s pedigree.

3.2 Bioinformatics analysis results

Polyphen-2 predicted both p.T60M and p.R334Q variants to be probably damaging, and these mutations were found to be highly conserved during evolution (Figure 2a and b). CLUSTAL analysis confirmed that Thr residue at position 60 and Arg residue at position 334 of the SLC12A3 protein were highly conserved, indicating their crucial biological function (Figure 2c and d). The substitution of Thr and Arg residues by Met and Gln, respectively, altered the physiochemical properties of the conserved amino acid residues, which in turn could affect the protein’s spiral structure and overall function.

Figure 2 Bioinformatics analysis of SLC12A3 gene variation. Two mutant acid sequences of SLC12A3 gene were predicted by PolyPhen-2 (a) and (b), CLUSTAL (c) and (d), and SOPMA (e).
Figure 2

Bioinformatics analysis of SLC12A3 gene variation. Two mutant acid sequences of SLC12A3 gene were predicted by PolyPhen-2 (a) and (b), CLUSTAL (c) and (d), and SOPMA (e).

Furthermore, secondary structure prediction by SOPMA demonstrated that substitution of Thr at residue 60 led to significant alteration of the protein secondary structure (Figure 2e). This structural perturbation was likely to impair protein function or cause damage. Conversely, the substitution of Arg at residue 334 did not significantly alter the protein’s secondary structure.

4 Discussion

Glomerulonephritis with associated hypokalemia-hypomagnesemia syndrome (GS) presents with significant individual variation in phenotype. It has been suggested that serum magnesium levels could impact phenotype. Research shows that male patients often display more symptoms than females, which may be linked to hormone levels. Even with the same mutation, female patients can present differently from their male counterparts. Further studies are warranted to explore the relationship between genotype and phenotype.

Management of GS commonly involves a high-sodium, high-potassium diet supplemented with potassium chloride and magnesium preparations. Magnesium aspartate, magnesium lactate, and magnesium chloride are deemed to be more bioavailable when compared to magnesium sulfate and magnesium oxide. However, it is important to note that oral administration of large amounts of magnesium preparations could lead to diarrhea. Typically, magnesium chloride is recommended at a dosage of 4–5 mg/(kg/day), administered in 3–4 doses to prevent diarrhea. Additionally, aldosterone antagonist spironolactone or collector epithelial sodium channel (ENaC) inhibitor (amiloride) should be used concurrently to reduce urinary potassium excretion.

The Human Gene Mutation Database shows that until 2014, 425 mutations had been reported in the SLC12A3 gene, with missense mutations being the most common, and heterozygous mutations being more common than homozygous mutations. Most patients present with two different mutation sites. The p.T60M mutation is the most prevalent amino acid mutation site in the Chinese and Asian populations [9,10], while IVS9 + 1G > T (c.1180 + 1G > T) is the most common mutation among Europeans [11]. The mechanisms by which NCCT function is impaired or lost due to mutation may include reduced protein synthesis, weakened binding of functional proteins to membranes, weakened function of synergistic transporters, and accelerated protein transport or degradation.

These two rare missense variants were identified in this patient. The p.T60M variant has been reported in clinical cases of hypokalemia, while the p.R334Q mutation has not been reported in clinical cases, yet its mutation region is a hotspot in this gene. Other pathogenic mutations in the same amino acid location, p.R334W and p.R334P, have been reported in clinical cases. The allele frequencies of these two mutations in global and East Asian populations are low in the GnomAD population database. Furthermore, the amino acid sequences of these mutations are highly conserved among different species (Figure 2a and b). According to ACMG mutation classification guidelines, these two mutations are classified as “likely pathogenic.”

The patient’s sister also carries these two pathogenic mutations, p.R334W and p.R334P, in the SLC12A3 gene, but she has yet to display any clinical phenotype of GS, given that GS is an adult-onset disease. As her sister is only 6 years old, regular clinical inspections of blood potassium and magnesium levels are recommended to enable early prevention and treatment by physicians.

In summary, identifying this novel SLC12A3 gene mutation expands the mutation spectrum and underscores the genetic heterogeneity of GS. This finding highlights the importance of molecular genetic diagnosis for individuals with GS carriers. The genetic testing results of this patient and her relatives provide additional support for phenotypic-genotype analysis of GS, which could facilitate early diagnosis, genetic counseling, and management of GS.

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  1. Funding information: This work was supported by the Guangdong Provincial Science and Technology Department’s project: Building an evidence-based practice guide and evaluation system for external treatment of diabetic peripheral neuropathy using standardized methods of traditional Chinese medicine (Approval No. 2017ZC0159).

  2. Author contributions: W.S. is responsible for the funding and overall management of the study. J.W. led the writing of the manuscript. L.Z., Y.Z. and X.H. were involved in the clinical Management. All authors have accepted responsibility for the entire content of this manuscript.

  3. Conflict of interest: Authors state no conflict of interest.

  4. Data availability statement: The datasets generated during and/or analyzed during the current study are available from the corresponding author on reasonable request.

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Received: 2022-12-30
Revised: 2023-05-09
Accepted: 2023-05-17
Published Online: 2023-06-20

© 2023 the author(s), published by De Gruyter

This work is licensed under the Creative Commons Attribution 4.0 International License.

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  266. Erratum
  267. Erratum to “Protein Z modulates the metastasis of lung adenocarcinoma cells”
  268. Erratum to “BRCA1 subcellular localization regulated by PI3K signaling pathway in triple-negative breast cancer MDA-MB-231 cells and hormone-sensitive T47D cells”
  269. Retraction
  270. Retraction to “Protocatechuic acid attenuates cerebral aneurysm formation and progression by inhibiting TNF-alpha/Nrf-2/NF-kB-mediated inflammatory mechanisms in experimental rats”
https://doi.org/10.1515/biol-2022-0634
Keywords for this article
Gitelman syndrome; hypokalemia; SLC12A3
Creative Commons
BY 4.0

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  205. Molecular mechanism of colorectal cancer and screening of molecular markers based on bioinformatics analysis
  206. Monitoring and evaluation of anesthesia depth status data based on neuroscience
  207. Exploring the conformational dynamics and thermodynamics of EGFR S768I and G719X + S768I mutations in non-small cell lung cancer: An in silico approaches
  208. Optimised feature selection-driven convolutional neural network using gray level co-occurrence matrix for detection of cervical cancer
  209. Incidence of different pressure patterns of spinal cerebellar ataxia and analysis of imaging and genetic diagnosis
  210. Pathogenic bacteria and treatment resistance in older cardiovascular disease patients with lung infection and risk prediction model
  211. Adoption value of support vector machine algorithm-based computed tomography imaging in the diagnosis of secondary pulmonary fungal infections in patients with malignant hematological disorders
  212. From slides to insights: Harnessing deep learning for prognostic survival prediction in human colorectal cancer histology
  213. Ecology and Environmental Science
  214. Monitoring of hourly carbon dioxide concentration under different land use types in arid ecosystem
  215. Comparing the differences of prokaryotic microbial community between pit walls and bottom from Chinese liquor revealed by 16S rRNA gene sequencing
  216. Effects of cadmium stress on fruits germination and growth of two herbage species
  217. Bamboo charcoal affects soil properties and bacterial community in tea plantations
  218. Optimization of biogas potential using kinetic models, response surface methodology, and instrumental evidence for biodegradation of tannery fleshings during anaerobic digestion
  219. Understory vegetation diversity patterns of Platycladus orientalis and Pinus elliottii communities in Central and Southern China
  220. Studies on macrofungi diversity and discovery of new species of Abortiporus from Baotianman World Biosphere Reserve
  221. Food Science
  222. Effect of berrycactus fruit (Myrtillocactus geometrizans) on glutamate, glutamine, and GABA levels in the frontal cortex of rats fed with a high-fat diet
  223. Guesstimate of thymoquinone diversity in Nigella sativa L. genotypes and elite varieties collected from Indian states using HPTLC technique
  224. Analysis of bacterial community structure of Fuzhuan tea with different processing techniques
  225. Untargeted metabolomics reveals sour jujube kernel benefiting the nutritional value and flavor of Morchella esculenta
  226. Mycobiota in Slovak wine grapes: A case study from the small Carpathians wine region
  227. Elemental analysis of Fadogia ancylantha leaves used as a nutraceutical in Mashonaland West Province, Zimbabwe
  228. Microbiological transglutaminase: Biotechnological application in the food industry
  229. Influence of solvent-free extraction of fish oil from catfish (Clarias magur) heads using a Taguchi orthogonal array design: A qualitative and quantitative approach
  230. Chromatographic analysis of the chemical composition and anticancer activities of Curcuma longa extract cultivated in Palestine
  231. The potential for the use of leghemoglobin and plant ferritin as sources of iron
  232. Investigating the association between dietary patterns and glycemic control among children and adolescents with T1DM
  233. Bioengineering and Biotechnology
  234. Biocompatibility and osteointegration capability of β-TCP manufactured by stereolithography 3D printing: In vitro study
  235. Clinical characteristics and the prognosis of diabetic foot in Tibet: A single center, retrospective study
  236. Agriculture
  237. Biofertilizer and NPSB fertilizer application effects on nodulation and productivity of common bean (Phaseolus vulgaris L.) at Sodo Zuria, Southern Ethiopia
  238. On correlation between canopy vegetation and growth indexes of maize varieties with different nitrogen efficiencies
  239. Exopolysaccharides from Pseudomonas tolaasii inhibit the growth of Pleurotus ostreatus mycelia
  240. A transcriptomic evaluation of the mechanism of programmed cell death of the replaceable bud in Chinese chestnut
  241. Melatonin enhances salt tolerance in sorghum by modulating photosynthetic performance, osmoregulation, antioxidant defense, and ion homeostasis
  242. Effects of plant density on alfalfa (Medicago sativa L.) seed yield in western Heilongjiang areas
  243. Identification of rice leaf diseases and deficiency disorders using a novel DeepBatch technique
  244. Artificial intelligence and internet of things oriented sustainable precision farming: Towards modern agriculture
  245. Animal Sciences
  246. Effect of ketogenic diet on exercise tolerance and transcriptome of gastrocnemius in mice
  247. Combined analysis of mRNA–miRNA from testis tissue in Tibetan sheep with different FecB genotypes
  248. Isolation, identification, and drug resistance of a partially isolated bacterium from the gill of Siniperca chuatsi
  249. Tracking behavioral changes of confined sows from the first mating to the third parity
  250. The sequencing of the key genes and end products in the TLR4 signaling pathway from the kidney of Rana dybowskii exposed to Aeromonas hydrophila
  251. Development of a new candidate vaccine against piglet diarrhea caused by Escherichia coli
  252. Plant Sciences
  253. Crown and diameter structure of pure Pinus massoniana Lamb. forest in Hunan province, China
  254. Genetic evaluation and germplasm identification analysis on ITS2, trnL-F, and psbA-trnH of alfalfa varieties germplasm resources
  255. Tissue culture and rapid propagation technology for Gentiana rhodantha
  256. Effects of cadmium on the synthesis of active ingredients in Salvia miltiorrhiza
  257. Cloning and expression analysis of VrNAC13 gene in mung bean
  258. Chlorate-induced molecular floral transition revealed by transcriptomes
  259. Effects of warming and drought on growth and development of soybean in Hailun region
  260. Effects of different light conditions on transient expression and biomass in Nicotiana benthamiana leaves
  261. Comparative analysis of the rhizosphere microbiome and medicinally active ingredients of Atractylodes lancea from different geographical origins
  262. Distinguish Dianthus species or varieties based on chloroplast genomes
  263. Comparative transcriptomes reveal molecular mechanisms of apple blossoms of different tolerance genotypes to chilling injury
  264. Study on fresh processing key technology and quality influence of Cut Ophiopogonis Radix based on multi-index evaluation
  265. An advanced approach for fig leaf disease detection and classification: Leveraging image processing and enhanced support vector machine methodology
  266. Erratum
  267. Erratum to “Protein Z modulates the metastasis of lung adenocarcinoma cells”
  268. Erratum to “BRCA1 subcellular localization regulated by PI3K signaling pathway in triple-negative breast cancer MDA-MB-231 cells and hormone-sensitive T47D cells”
  269. Retraction
  270. Retraction to “Protocatechuic acid attenuates cerebral aneurysm formation and progression by inhibiting TNF-alpha/Nrf-2/NF-kB-mediated inflammatory mechanisms in experimental rats”
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