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
em 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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Proteína Proteolipídica de Mielina
/
Mutação de Sentido Incorreto
/
Doença de Pelizaeus-Merzbacher
/
Sequenciamento do Exoma
Tipo de estudo:
Prognostic_studies
Limite:
Child, preschool
/
Female
/
Humans
/
Male
País/Região como assunto:
Africa
Idioma:
En
Revista:
BMC Pediatr
Assunto da revista:
PEDIATRIA
Ano de publicação:
2018
Tipo de documento:
Article
País de afiliação:
Marrocos