Evidence map›Paper›PMID 33428121›Full record

ArticleIndian journal of gastroenterology : official journal of the Indian Society of Gastroenterology2021

A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.

Cyriac Abby Philips, Meenal Agarwal, Sasidharan Rajesh, Rizwan Ahamed, Philip Augustine

Abstract readCase Reports
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In one paragraph

Article in Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology, 2021. 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
0.3field-weighted citation impact, top 41% 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
  2. Editorial commentary on the Indian Journal of Gastroenterology January-February 2021.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2021
    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

5 authors at 3 institutions in 2 countries.

Cyriac Abby PhilipsThe Liver Unit and Monarch Liver Lab, Cochin Gastroenterology Group, Ernakulam Medical Center, Kochi, 682 028, India. abbyphilips@gmail.com.ORCID 0000-0002-9587-336X
Meenal AgarwalClinical Genetics, GenePath Diagnostics, Pune, 411 004, India.
Sasidharan RajeshInterventional Radiology, Department of Gastroenterology and Hepatology, Cochin Gastroenterology Group, Ernakulam Medical Center, Kochi, 682 028, India.
Rizwan AhamedGastroenterology and Advanced G.I Endoscopy, Cochin Gastroenterology Group, Ernakulam Medical Center, Kochi, 682 028, India.
Philip AugustineGastroenterology and Advanced G.I Endoscopy, Cochin Gastroenterology Group, Ernakulam Medical Center, Kochi, 682 028, India.
General Hospital Ernakulam · INGenePath Dx (India) · INMorpho (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Dubin-Johnson syndrome (DJS), an autosomal recessive disorder presenting with conjugated hyperbilirubinemia, is not associated with progression to chronic liver disease (CLD). Next-generation sequencing, application of bioinformatics pipeline, and segregation analysis were performed on 8 members of a consanguineous family with DJS and CLD. A novel variant, c.4406_4407delTA (p.Leu1469fs), in the ABCC2-gene in a homozygous state was found to be associated with DJS and CLD in proband and afflicted family members. DJS may not be a benign entity and novel genetic variants may be associated with progressive liver disease.

Indexed as

ATP-Binding Cassette, Sub-Family C ProteinsEnd Stage Liver DiseaseFemaleFrameshift MutationGenetic Predisposition to DiseaseHumansJaundice, Chronic IdiopathicMedical IllustrationMiddle AgedMultidrug Resistance-Associated Protein 2ABCC2 protein, humanATP-Binding Cassette, Sub-Family C ProteinsMultidrug Resistance-Associated Protein 2Bile saltBilirubin metabolismChronic liver diseaseCirrhosisCongenital liver diseaseHepatic pigmentHereditary hyperbilirubinemiaHyperbilirubinemiaPortal hypertension

Identifiers

PMID33428121
OpenAlexW3120337878

What OpenQuestion holds

Textmetadata
Read underepoch 390

Registered trials

None linked

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.