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

BMC Pediatrics
Jaber LyahyaiAbdelaziz Sefiani

Abstract

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. 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. This report extends the spectrum of PLP1 mutations and highlights the diagnostic utility of NGS ...Continue Reading

References

May 20, 2009·Bioinformatics·Heng Li, Richard Durbin
Dec 22, 2009·Brain & Development·Hitoshi OsakaSumimasa Yamashita
Jul 6, 2010·Nucleic Acids Research·Kai WangHakon Hakonarson
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Software Mentioned

GATK
BWA
UnifiedGenotyper
ANNOVAR
SIFT
Polyphen2
Multiz Alignments Track Genome Browser
Genome Analysis ToolKit ( GATK )

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