Evidence map›Paper›PMID 26365003›Full record

ArticleJournal of clinical laboratory analysis2016

Severe Polycystic Liver Disease Is Not Caused by Large Deletions of the PRKCSH Gene.

Wybrich R Cnossen, Jake S F Maurits, Jody Salomon, René H M Te Morsche, Esmé Waanders, Joost P H Drenth

Open access · bronzeAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Journal of clinical laboratory analysis, 2016. 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
0.5field-weighted citation impact, top 27% 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, 3 citations in OpenAlex.

  1. 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

6 authors at 2 institutions in 1 country.

Wybrich R CnossenDepartment of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
Jake S F MauritsDepartment of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
Jody SalomonDepartment of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
René H M Te MorscheDepartment of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands.
Esmé WaandersDepartment of Human Genetics, Radboud Institute for Molecular Life Sciences, Radboud University Medical Center, Nijmegen, The Netherlands.
Joost P H DrenthDepartment of Gastroenterology and Hepatology, Radboud University Medical Center, Nijmegen, The Netherlands. joostphdrenth@cs.com.
Radboud University Medical Center · NLRadboud University Nijmegen · NL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundIsolated polycystic liver disease (ADPLD) is an autosomal dominant Mendelian disorder. Heterozygous PRKCSH (where PRKCSH is protein kinase C substrate 80K-H (80 kDa protein, heavy chain; MIM*177060) mutations are the most frequent cause. Routine molecular testing using Sanger sequencing identifies pathogenic variants in the PRKCSH (15%) and SEC63 (where SEC63 is Saccharomyces cerevisiae homolog 63 (MIM*608648); 6%) genes, but about approximately 80% of patients meeting the clinical ADPLD criteria carry no PRKCSH or SEC63 mutation. Cyst tissue often shows somatic deletions with loss of heterozygosity that was recently recognized as a general mechanism in ADPLD. We hypothesized that germline deletions in the PRKCSH gene may be responsible for hepatic cystogenesis in a significant number of mutation-negative ADPLD patients.

methodsIn this study, we designed a multiplex ligation-dependent probe amplification (MLPA) assay to screen for deletions of PRKCSH exons. Genomic DNA from 60 patients with an ADPLD phenotype was included.

resultsMLPA analysis detected no exon deletions in mutation-negative ADPLD patients.

conclusionLarge copy number variations on germline level are not present in patients with a clinical diagnosis of ADPLD. MLPA analysis of the PRKCSH gene should not be considered as a diagnostic method to explain hepatic cystogenesis.

Indexed as

AdultAgedCalcium-Binding ProteinsCystsFemaleGlucosidasesHumansIntracellular Signaling Peptides and ProteinsLiver DiseasesMaleMembrane ProteinsMiddle AgedMolecular ChaperonesMultiplex Polymerase Chain ReactionRetrospective StudiesRNA-Binding ProteinsCalcium-Binding ProteinsGlucosidasesIntracellular Signaling Peptides and ProteinsMembrane ProteinsMolecular ChaperonesPRKCSH protein, humanRNA-Binding ProteinsSEC63 protein, humanADPLD; PRKCSHexon deletiongenetic heterogeneityhepatic cystogenesisMLPA

Identifiers

PMID26365003
PMCPMC6807128
OpenAlexW1869230054

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.