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Rigshospitalet - a part of Copenhagen University Hospital
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SLC7A3: In Silico Prediction of a Potential New Cause of Childhood Epilepsy

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DOI

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  • Jo Sourbron
  • Katrien Jansen
  • Davide Mei
  • Trine Bjørg Hammer
  • Rikke S Møller
  • Nina B Gold
  • Lauren O'Grady
  • Renzo Guerrini
  • Lieven Lagae
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We report an in-depth genetic analysis in an 11-year-old boy with drug-resistant, generalized seizures and developmental disability. Three distinct variants of unknown clinical significance (VUS) were detected by whole exome sequencing (WES) but not by initial genetic analyses (microarray and epilepsy gene panel). These variants involve the SLC7A3, CACNA1H, and IGLON5 genes, which were subsequently evaluated by computational analyses using the InterVar tool and MutationTaster. While future functional studies are necessary to prove the pathogenicity of a certain VUS, segregation analyses over three generations and in silico predictions suggest the X-linked gene SLC7A3 (transmembrane solute carrier transporter) as the likely culprit gene in this patient. In addition, a search via GeneMatcher unveiled two additional patients with a VUS in SLC7A3. We propose SLC7A3 as a likely candidate gene for epilepsy and/or developmental/cognitive delay and provide an overview of the 27 SLC genes related to epilepsy by other preclinical and/or clinical studies.

Original languageEnglish
JournalNeuropediatrics
Volume53
Issue number1
Pages (from-to)46-51
Number of pages6
ISSN0174-304X
DOIs
Publication statusPublished - Feb 2022

Bibliographical note

Thieme. All rights reserved.

    Research areas

  • case reports, epilepsy, gene panel, SLC7A3, whole exome sequencing

ID: 73321188