Exome sequencing reveals a novel PLP1 mutation in a Moroccan family with connatal Pelizaeus-Merzbacher disease: a case report.
BMC Pediatr
; 18(1): 90, 2018 02 27.
Article
en En
| MEDLINE
| ID: mdl-29486744
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.Palabras clave
Texto completo:
1
Bases de datos:
MEDLINE
Asunto principal:
Proteína Proteolipídica de la Mielina
/
Mutación Missense
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Enfermedad de Pelizaeus-Merzbacher
/
Secuenciación del Exoma
Tipo de estudio:
Prognostic_studies
Límite:
Child, preschool
/
Female
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Humans
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Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
BMC Pediatr
Asunto de la revista:
PEDIATRIA
Año:
2018
Tipo del documento:
Article
País de afiliación:
Marruecos