Evidence map›Paper›PMID 39610430›Full record

ArticleJPGN reports2024

A novel genetic variant associated with progressive familial intrahepatic cholestasis type 3: A case series.

Brooke P Quertermous, Hayley J Hawkins, Alyssa A Schlotman, Huiying Wang, Sarah Kemme, Anita Pai, Settapong Jitwongwai, Napat Angkathunyakul, Ananya Pongpaibul, Saeed Mohammad

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Article in JPGN reports, 2024. 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
–field-weighted citation impact
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. 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

10 authors.

Brooke P QuertermousDepartment of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA.ORCID https://orcid.org/0000-0003-0237-0972
Hayley J HawkinsDepartment of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA.
Alyssa A SchlotmanDepartment of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA.
Huiying WangDepartment of Pathology, Microbiology, and Immunology Vanderbilt University Medical Center Nashville Tennessee USA.
Sarah KemmeDepartment of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA.
Anita PaiDepartment of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA.
Settapong JitwongwaiDepartment of Pediatrics, Division of Gastroenterology, Siriraj Hospital Mahidol University Bangkok Thailand.
Napat AngkathunyakulDepartment of Pathology, Siriraj Hospital Mahidol University Bangkok Thailand.
Ananya PongpaibulDepartment of Pathology, Siriraj Hospital Mahidol University Bangkok Thailand.
Saeed MohammadDepartment of Pediatrics Vanderbilt University Medical Center Nashville Tennessee USA.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Progressive familial intrahepatic cholestasis type 3 (PFIC-3) is a rare disorder characterized by chronic cholestasis usually progressing to end-stage liver disease (ESLD) within the first two decades of life. PFIC-3 is caused by pathogenic genetic variants of the ATP-binding cassette 4 (ABCB4) gene with variable inheritance; the most common is autosomal recessive. We present two cases of PFIC-3 with genetic testing confirming a novel genetic variant in ABCB4 with homozygous genotype c.779 T > C, p.L260P. Both individuals are from mainland Southeast Asia and have a clinical picture consistent with cholestasis progressing to ESLD.

Indexed as

cirrhosisend‐stage liver diseasewhole exome sequencing

Identifiers

PMID39610430
PMCPMC11600367

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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.