Autosomal recessive spinocerebellar ataxia 18 caused by homozygous exon 14 duplication in GRID2 and review of the literature.
Cerebellar ataxia
GRID2
Homozygote duplication
Journal
Acta neurologica Belgica
ISSN: 2240-2993
Titre abrégé: Acta Neurol Belg
Pays: Italy
ID NLM: 0247035
Informations de publication
Date de publication:
Dec 2021
Dec 2021
Historique:
received:
06
10
2019
accepted:
29
02
2020
pubmed:
15
3
2020
medline:
23
2
2022
entrez:
15
3
2020
Statut:
ppublish
Résumé
Autosomal recessive cerebellar ataxias (ARCA) are characterized by the abnormal structure of the cerebellum and spinal cord. Spinocerebellar ataxia type 18 (MIM 616204), one of the ARCA, is caused by the loss-of-function mutations of the GRID2 gene due to deletions. Missense mutations in the GRID2 cause ataxia with the gain-of-function mechanism. We report a homozygous GRID2 duplication in childhood-onset ataxia in two siblings. The clinical exome sequencing was performed on one of the siblings. No disease-causing mutations were reported as a result of the clinical exome test. Chromosomal microarray analysis was performed on the entire family using Affymetrix Optima
Identifiants
pubmed: 32170608
doi: 10.1007/s13760-020-01328-z
pii: 10.1007/s13760-020-01328-z
doi:
Substances chimiques
Receptors, Glutamate
0
glutamate receptor delta 2
0
Types de publication
Case Reports
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
1457-1462Informations de copyright
© 2020. Belgian Neurological Society.
Références
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