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BMC Pediatrics
Published in: BMC Pediatrics 1/2018

Open Access 01-12-2018 | Case report

Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report

Authors: Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau, Abdelaziz Sefiani

Published in: BMC Pediatrics | Issue 1/2018

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Abstract

Background

Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous background with a strong genetic contribution and various mode of inheritance. X-linked epilepsy usually manifests as part of a syndrome or epileptic encephalopathy. The variability of clinical manifestations of X-linked epilepsy may be attributed to several factors including the causal genetic mutation, making diagnosis, genetic counseling and treatment decisions difficult. We report the description of a Moroccan family referred to our genetic department with X-linked epileptic seizures as the only initial diagnosis.

Case presentation

Knowing the new contribution of Next-Generation Sequencing (NGS) for clinical investigation, and given the heterogeneity of this group of disorders we performed a Whole-Exome Sequencing (WES) analysis and co-segregation study in several members of this large family. We detected a novel pathogenic PLP1 missense mutation c.251C > A (p.Ala84Asp) allowing us to make a diagnosis of Pelizaeus-Merzbacher Disease for this family.

Conclusion

This report extends the spectrum of PLP1 mutations and highlights the diagnostic utility of NGS to investigate this group of heterogeneous disorders.
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Metadata
Title
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report
Authors
Jaber Lyahyai
Bouchra Ouled Amar Bencheikh
Siham C. Elalaoui
Maria Mansouri
Lamia Boualla
Alexandre DIonne-Laporte
Dan Spiegelman
Patrick A. Dion
Patrick Cossette
Guy A. Rouleau
Abdelaziz Sefiani
Publication date
01-12-2018
Publisher
BioMed Central
Published in
BMC Pediatrics / Issue 1/2018
Electronic ISSN: 1471-2431
DOI
https://doi.org/10.1186/s12887-018-1063-5

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