Evidence map›Paper›PMID 41413819›Full record

ArticleBMC medical genomics2025

Novel TRIP12 variants in two Lebanese patients with neurodevelopmental delay.

Simone Khalifeh, Nadine J Makhoul, Samah Trad, Sara Amro, Medhat Siddik, Joe Bedran, Rose-Mary Boustany

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Article in BMC medical genomics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

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1 · What the graph read from it

What it found

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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.

Simone KhalifehPediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. sk205@aub.edu.lb.
Nadine J MakhoulNeurogenetics Program, Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
Samah TradNeurogenetics Program, Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
Sara AmroFaculty of Medicine, American University of Beirut, Beirut, Lebanon.
Medhat SiddikFaculty of Medicine, American University of Beirut, Beirut, Lebanon.
Joe BedranNeurogenetics Program, Department of Biochemistry and Molecular Genetics, American University of Beirut, Beirut, Lebanon.
Rose-Mary BoustanyPediatrics and Adolescent Medicine, American University of Beirut Medical Center, Beirut, Lebanon. rb50@aub.edu.lb.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundThe TRIP12 gene, encoding an E3 ligase involved in the ubiquitin-proteasome pathway, is implicated in Clark-Baraitser syndrome which causes neurodevelopmental delay and intellectual disability (ID). This study aims to present and characterize two distinct novel TRIP12 variants in two unrelated Lebanese children with neurodevelopmental delay.

methodsExome sequencing (ES) was performed, followed by in silico assessment of variant impact on protein structure. Clinical and molecular findings were described. Literature review was carried out on previously published TRIP12 variants.

resultsPatients demonstrated hypotonia, speech and motor delay. ES uncovered a paternally inherited missense variant in the TRIP12 gene (c.5905T > A nucleotide substitution) in patient 1, and a de novo indel variant causing an in-frame change (c.4532_4538delinsC) in patient 2. Affected amino acids in both variants were highly conserved, and structural analyses of mutant variants suggested altered TRIP12 protein structure. No phenotypic distinction emerged in comparison to 70 published TRIP12 variants.

conclusionThis study introduces the first Lebanese TRIP12 variants in developmentally delayed patients. It expands the genotypic spectrum of TRIP12-related neurodevelopmental disorders and underscores their variable expressivity.

Indexed as

Developmental DisabilitiesNeurodevelopmental DisordersUbiquitin-Protein LigasesAmino Acid SequenceCarrier ProteinsChild, PreschoolExome SequencingFemaleHumansInfantLebanonMaleModels, MolecularMutation, MissenseCarrier ProteinsTRIP12 protein, humanUbiquitin-Protein LigasesDevelopmental delayExome sequencingGenotype-phenotype correlationTRIP12 gene

Identifiers

PMID41413819
PMCPMC12831319

What Socratic 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 Socratic graph.