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

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.

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Publication Details

Journal
Genes
Published
2025-11-05
DOI
https://doi.org/10.3390/genes16111334
Primary Topic
Metabolism and Genetic Disorders
Type
article
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article

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

Annamaria Sapuppo, María Clara Bonaglia, Vincenzo Sortino, Chiara Barberi et al.
Genes
Metabolism and Genetic Disorders
article

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

Annamaria Sapuppo, María Clara Bonaglia, Vincenzo Sortino, Chiara Barberi, Giovanni Corsello, Cátia Romano, Eliana Salvo, Xena Giada Pappalardo, Martino Ruggieri, Raffaele Falsaperla, Roberta Rizzo, Lucia Saccuzzo, Gaia Fusto, Marco Fichera
article en

Abstract

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.

GenesVol. 16(11)
University of Ferrara (IT), University of Catania (IT), Oasi Maria SS (IT), Policlinico Universitario di Catania (IT), IRCCS Eugenio Medea (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Azienda Ospedaliero Universitaria Policlinico "G.Rodolico - San Marco" (IT), University of Palermo (IT)
Openalex Percentile: Top 63%
Metabolism and Genetic Disorders
DOIOpen Access PDFOpenAlex
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