Evidence map›Paper›PMID 42510827›Full record

ReviewGenes2026

A Novel Intronic Variant in

Nabil El Kahy, Adib Moukarzel, Nada Assaf, Riwa Chdid, Romy Moussallem, Nabiha Salem, Alain Chebly

Abstract readCase ReportsReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Genes, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

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

7 authors.

Nabil El KahyFaculty of Medicine, Saint Joseph University of Beirut, Beirut 1104 2020, Lebanon.ORCID 0009-0002-3250-6156
Adib MoukarzelDepartment of Pediatrics, Hotel-Dieu de France University Hospital, Beirut 1104 2020, Lebanon.
Nada AssafDepartment of Pathology and Laboratory Medicine, American University of Beirut Medical Center (AUBMC), Beirut 1107 2020, Lebanon.ORCID 0000-0002-3352-2660
Riwa ChdidCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Saint Joseph University of Beirut, Beirut P.O. Box 17-5208, Lebanon.
Romy MoussallemCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Saint Joseph University of Beirut, Beirut P.O. Box 17-5208, Lebanon.
Nabiha SalemCenter Jacques Loiselet for Medical Genetics and Genomics (CGGM), Saint Joseph University of Beirut, Beirut P.O. Box 17-5208, Lebanon.
Alain CheblyFaculty of Medicine, Saint Joseph University of Beirut, Beirut 1104 2020, Lebanon.ORCID 0000-0001-5582-2923

Funding

Saint Joseph University FM451
6 · The paper itself

Abstract

BACKGROUND/

objectivesHardikar syndrome (HDKR) is an X-linked dominant disorder caused by pathogenic variants in the Mediator complex subunit 12 (

methodsWhole-exome sequencing (WES) was performed to investigate the underlying genetic etiology, followed by parental segregation analysis using Sanger sequencing to confirm and characterize the identified variant.

resultsWES identified a novel de novo intronic heterozygous variant in

conclusionsThis case underscores the diagnostic utility of WES in infants with unexplained cholestasis, highlights the importance of considering noncoding variants, and illustrates the value of reporting well-characterized patients carrying novel VUS, thereby contributing to the growing body of clinical and molecular evidence on

Indexed as

Cholestasis, IntrahepaticGenetic Diseases, X-LinkedMediator ComplexChild, PreschoolCholestasisExome SequencingFemaleHumansIntronsPhenotypeMED12 protein, humanMediator Complexcholestasisgenotype-phenotype correlationHardikar syndromeMED12rare diseasesegregation analysiswhole-exome sequencing

Identifiers

PMID42510827
PMCPMC13410213

What Socratic holds

Textmetadata
LicenceCC BY
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 Socratic graph.