Evidence map›Paper›PMID 32970388›Full record

ArticleMolecular genetics & genomic medicine2020

Disease causing property analyzation of variants in 12 Chinese families with polycystic kidney disease.

Kexian Dong, Xiaogang Liu, Xueyuan Jia, Huanhuan Miao, Wei Ji, Jie Wu, Yun Huang, Lidan Xu, Xuelong Zhang, Hui Su and 7 more

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 38% 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

2 citing papers in PubMed, 1 citations in OpenAlex.

  1. Article
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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

17 authors at 2 institutions in 1 country.

Kexian DongLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Xiaogang LiuDepartment of Nephrology, The First Affiliated Hospital of Harbin Medical University, Harbin, China.
Xueyuan JiaLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Huanhuan MiaoIn-Patient Ultrasound Department, The Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Wei JiLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Jie WuLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Yun HuangLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Lidan XuLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Xuelong ZhangLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Hui SuLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Guohua JiLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Peng LiuLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Rongwei GuanLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Jing BaiLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.
Songbin FuLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.ORCID 0000-0003-0382-9888
Xianli ZhouIn-Patient Ultrasound Department, The Second Affiliated Hospital of Harbin Medical University, Harbin, China.
Wenjing SunLaboratory of Medical Genetics, Harbin Medical University, Harbin, China.ORCID 0000-0001-5638-5892
Ministry of Education of the People's Republic of China · CNHarbin Medical University · CN

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPolycystic kidney disease (PKD) is an inherited disease that is life-threatening. Multiple cysts are present in the bilateral kidneys of PKD patients. The progressively enlarged cysts cause structural damage and loss of kidney function.

methodsThis study examined and analyzed 12 families with polycystic kidney disease. Whole exome sequencing (WES) or whole genome sequencing (WGS) of the probands was performed to detect the pathogenic genes. The candidate gene segments for lineal consanguinity in the family were amplified by the nest PCR followed by Sanger sequencing. The variants were assessed by pathogenic and conservational property prediction analysis and interpreted according to the American College of Medical Genetics and Genomics.

resultsNine of the 12 pedigrees were identified the disease causing variants. Among them, four novel variants in PKD1, c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) were detected. After assessment, the four novel variants were considered to be pathogenic variants and cause autosomal dominant polycystic kidney disease in family. The detected variants were interpreted.

conclusionThe four novel variants in PKD1, c.6930delG:p.C2311Vfs*3, c.1216T>C:p.C406R, c.8548T>C:p.S2850P, and c.3865G>A:p.V1289M (NM_001009944.2) are pathogenic variants and cause autosomal dominant polycystic kidney disease in family.

Indexed as

MutationAdultConsanguinityFemaleGene FrequencyHumansMaleMiddle AgedPedigreePolycystic Kidney DiseasesProtein DomainsTRPP Cation ChannelsTRPP Cation Channelsautosomal dominantinheritancenovel variantspedigreepolycystic kidney disease

Identifiers

PMID32970388
PMCPMC7667323
OpenAlexW3088124474

What OpenQuestion holds

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LicenceCC BY-NC-ND
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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.