Evidence map›Paper›PMID 41300786›Full record

ArticleGenes2025

Chromothriptic Translocation t(1;18): A Paradigm of Genomic Complexity in a Child with Normal Intellectual Development and Pyridoxine-Dependent Epilepsy.

Raffaele Falsaperla, Eliana Salvo, Annamaria Sapuppo, Chiara Barberi, Vincenzo Sortino, Gaia Fusto, Roberta Rizzo, Xena Giada Pappalardo, Giovanni Corsello, Martino Ruggieri and 4 more

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PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed, 1 pooled it
–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 synthesis or guideline pooled it.

  1. Genes · 2026
    Pooled it
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

14 authors.

Raffaele FalsaperlaDepartment of Medical Science, Pediatrics, University of Ferrara, 44124 Ferrara, Italy.ORCID 0000-0002-4482-3506
Eliana SalvoLaboratory of Cytogenetics, IRCCS E. Medea, 23842 Bosisio Parini, Italy.ORCID 0000-0001-9407-3195
Annamaria SapuppoUnit of Pediatrics, Pediatric Emergency Department, Azienda Ospedaliero-Universitaria Policlinico "Rodolico-San Marco", San Marco Hospital, 95123 Catania, Italy.ORCID 0000-0001-9433-026X
Chiara BarberiPostgraduate Training Program in Pediatrics, University of Palermo, 90121 Palermo, Italy.
Vincenzo SortinoUnit of Pediatrics, Pediatric Emergency Department, Azienda Ospedaliero-Universitaria Policlinico "Rodolico-San Marco", San Marco Hospital, 95123 Catania, Italy.ORCID 0000-0002-0188-8430
Gaia FustoDepartment of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, 95123 Catania, Italy.
Roberta RizzoDepartment of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, 95123 Catania, Italy.
Xena Giada PappalardoDepartment of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, 95123 Catania, Italy.
Giovanni CorselloDepartment of Health Promotion, Mother and Child Care, Internal Medicine and Medical Specialties "G. D'Alessandro", University of Palermo, 90121 Palermo, Italy.
Martino RuggieriUnit of Clinical Pediatrics, Unit of Rare Disease AOU "Policlinico", PO "G. Rodolico", University of Catania, 95123 Catania, Italy.
Catia RomanoAzienda Sanitaria Provinciale (ASP) di Catania, 95124 Catania, Italy.
Lucia SaccuzzoSection of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, 95123 Catania, Italy.ORCID 0009-0001-0444-1407
Marco FicheraSection of Clinical Biochemistry and Medical Genetics, Department of Biomedical and Biotechnological Sciences, Medical Genetics, University of Catania, 95123 Catania, Italy.ORCID 0000-0002-8225-6880
Maria Clara BonagliaLaboratory of Cytogenetics, IRCCS E. Medea, 23842 Bosisio Parini, Italy.ORCID 0000-0002-7121-7712

Funding

European Union - Next Generation EU - NRRP M6C2 - Investment 2.1 Enhancement and strengthening of biomedical research in the NHS PNRR-MR1-2023-12377843, title "Creating next-generation databases to improve molecular diagnosis in neurodevelopmental disorders."
6 · The paper itself

Abstract

backgroundPyridoxine-dependent epilepsy (PDE) is a rare disorder characterized by seizures resistant to conventional treatments but responsive to pyridoxine therapy. Typically caused by biallelic variants in

methodsFollowing negative results from WES, optical genome mapping (OGM) and whole-genome sequencing (WGS) were performed to highlight any potential structural variants involving known PDE-associated genes.

resultsOGM and WGS revealed a recurrent 16p11.2 BP4-5 duplication, inherited from his healthy father, along with a de novo chromothripsis-type unbalanced t(1;18)(p22.3;q12.3), affecting several genes not currently associated with epilepsy ( DISCUSSION: While the molecular data do not pinpoint a single gene or locus as the cause of seizures in this case, a key aspect of our patient's phenotype is true pyridoxine dependence, rather than just pyridoxine responsiveness. We propose that the genomic complexity associated with the chromothriptic t(1;18) and the 16p11.2 BP4-5 duplication may create a unique metabolic environment in which pyridoxine-dependent pathways are disrupted through unconventional mechanisms. The preservation of cognitive function in our case has been observed in small groups of PDE patients, especially those diagnosed and treated early. This may indicate a distinct phenotypic subgroup that warrants further genetic investigation.

Indexed as

EpilepsyTranslocation, GeneticAdolescentChromosomes, Human, Pair 16HumansMalePyridoxineWhole Genome SequencingPyridoxine16p11.2 duplication18q12.3 deletionoptical genome mappingRIT2seizureswhole-genome sequencing

Identifiers

PMID41300786
PMCPMC12652939

What Socratic holds

Textmetadata
LicenceCC BY
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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.