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- Title
Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
- Authors
Lyahyai, Jaber; Oulad Amar Bencheikh, Bouchra; Elalaoui, Siham C.; Mansouri, Maria; Boualla, Lamia; DIonne-Laporte, Alexandre; Spiegelman, Dan; Dion, Patrick A.; Cossette, Patrick; Rouleau, Guy A.; Sefiani, Abdelaziz; Ouled Amar Bencheikh, Bouchra
- Abstract
<bold>Background: </bold>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.<bold>Case Presentation: </bold>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.<bold>Conclusion: </bold>This report extends the spectrum of PLP1 mutations and highlights the diagnostic utility of NGS to investigate this group of heterogeneous disorders.
- Subjects
PELIZAEUS-merzbacher disease; EXOMES; NUCLEOTIDE sequence; NEUROLOGICAL disorders; EPILEPSY
- Publication
BMC Pediatrics, 2018, Vol 18, p1
- ISSN
1471-2431
- Publication type
journal article
- DOI
10.1186/s12887-018-1063-5