Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.

Détails

ID Serval
serval:BIB_148619F76195
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Institution
Titre
Early-onset encephalopathy with epilepsy associated with a novel splice site mutation in SMC1A.
Périodique
American Journal of Medical Genetics. Part A
Auteur(s)
Lebrun N., Lebon S., Jeannet P.Y., Jacquemont S., Billuart P., Bienvenu T.
ISSN
1552-4833 (Electronic)
ISSN-L
1552-4825
Statut éditorial
Publié
Date de publication
2015
Peer-reviewed
Oui
Volume
167A
Numéro
12
Pages
3076-3081
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article
Publication Status: ppublish
Résumé
We report on the clinical and molecular characterization of a female patient with early-onset epileptic encephalopathy, who was found to carry a de novo novel splice site mutation in SMC1A. This girl shared some morphologic and anthropometric traits described in patients with clinical diagnosis of Cornelia de Lange syndrome and with SMC1A mutation but also has severe encephalopathy with early-onset epilepsy. In addition, she had midline hand stereotypies and scoliosis leading to the misdiagnosis of a Rett overlap syndrome. Molecular studies found a novel de novo splice site mutation (c.1911 + 1G > T) in SMC1A. This novel splice mutation was associated with an aberrantly processed mRNA that included intron 11 of the gene. Moreover, quantitative approach by RT-PCR showed a severe reduction of the SMC1A transcript suggesting that this aberrant transcript may be unstable and degraded. Taken together, our data suggest that the phenotype may be due to a loss-of-function of SMC1A in this patient. Our findings suggest that loss-of-function mutations of SMC1A may be associated with early-onset encephalopathy with epilepsy.
Mots-clé
Age of Onset, Brain Diseases/diagnosis, Brain Diseases/genetics, Cell Cycle Proteins/genetics, Chromosomal Proteins, Non-Histone/genetics, De Lange Syndrome/diagnosis, De Lange Syndrome/genetics, Epilepsy/diagnosis, Epilepsy/genetics, Female, Humans, Infant, Newborn, Mutation/genetics, Phenotype, Prognosis, RNA Splice Sites/genetics, RNA, Messenger/genetics, Real-Time Polymerase Chain Reaction, Reverse Transcriptase Polymerase Chain Reaction
Pubmed
Web of science
Création de la notice
19/02/2016 19:50
Dernière modification de la notice
20/08/2019 13:43
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