Evidence map›Paper›PMID 32712837›Full record

ReviewGenes & genomics2020

A novel compound heterozygous mutation of SLC12A3 gene in a pedigree with Gitelman syndrome and literature review.

Minglan Yang, Ying Dong, Jianqing Tian, Li Yan, Yawen Chen, Huiying Qiu, Wei Liu, Yaomin Hu

Abstract readReview
PubMed Publisher
In one paragraph

Review in Genes & genomics, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.1field-weighted citation impact, top 55% of its field
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed, 1 citations in OpenAlex.

  1. A novel mutation ofSAGE open medical case reports · 2022
    Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

8 authors at 1 institution in 1 country.

Minglan YangDepartment of Endocrinology and Metabolic Diseases, Renji Hospital, Shanghai Jiaotong University, School of Medicine, 160 Pujian Road, Shanghai, 200127, China.
Ying DongDepartment of Endocrinology and Metabolic Diseases, Renji Hospital, Shanghai Jiaotong University, School of Medicine, 160 Pujian Road, Shanghai, 200127, China.
Jianqing TianDepartment of Endocrinology and Metabolic Diseases, Renji Hospital, Shanghai Jiaotong University, School of Medicine, 160 Pujian Road, Shanghai, 200127, China.
Li YanDepartment of Endocrinology and Metabolic Diseases, Renji Hospital, Shanghai Jiaotong University, School of Medicine, 160 Pujian Road, Shanghai, 200127, China.
Yawen ChenDepartment of Endocrinology and Metabolic Diseases, Renji Hospital, Shanghai Jiaotong University, School of Medicine, 160 Pujian Road, Shanghai, 200127, China.
Huiying QiuDepartment of Endocrinology and Metabolic Diseases, Renji Hospital, Shanghai Jiaotong University, School of Medicine, 160 Pujian Road, Shanghai, 200127, China.
Wei LiuDepartment of Endocrinology and Metabolic Diseases, Renji Hospital, Shanghai Jiaotong University, School of Medicine, 160 Pujian Road, Shanghai, 200127, China. sue_liuwei@163.com.
Yaomin HuDepartment of Endocrinology and Metabolic Diseases, Renji Hospital, Shanghai Jiaotong University, School of Medicine, 160 Pujian Road, Shanghai, 200127, China. amin1031@hotmail.com.
Renji Hospital · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundGitelman syndrome (GS) is a tubulopathy characterized by hypokalemia, hypomagnesemia, hypocalciuria and metabolic alkalosis, which is caused by mutations in SLC12A3 gene.

objectiveThe objective of this study was to investigate the mutation of SLC12A3 gene in a pedigree with GS and analyzed the clinical manifestations.

methodsNext-generation sequencing and Sanger sequencing were performed to explore the mutations of SLC12A3 gene in a GS pedigree that included a 59-year-old male GS patient and a total of 11 family members within three generations.

resultsA novel compound heterozygous mutation of SLC12A3 gene (c.1712T > C in exon14 and c.2986_2987ins GCT in exon26) was identified by genetic testing in the proband. Moreover, we demonstrated that two brothers shared the same heterozygous mutation with the proband, but only one brother had the GS related symptoms. His nephew was the carrier of one mutation (c.1712T > C), and one of his brother, his sister and niece were carriers of the other (c.2986_2987ins GCT).

conclusionsThis is the first study to report the novel pathogenic compound heterozygous mutation of SLC12A3 gene in GS. Our result further supports the lack of phenotype-genotype correlations in GS. Further functional studies are required to investigate pathophysiologic mechanisms of GS.

Indexed as

AdultFamilyFemaleGenetic Association StudiesGenetic TestingGitelman SyndromeHeterozygoteHigh-Throughput Nucleotide SequencingHumansHypokalemiaMaleMiddle AgedMutationPedigreePhenotypeSolute Carrier Family 12, Member 3SLC12A3 protein, humanSolute Carrier Family 12, Member 3Gitelman syndromeHypokalemiaPedigreeSLC12A3 gene

Identifiers

PMID32712837
OpenAlexW3044870312

What OpenQuestion holds

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Registered trials

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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.