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Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene
- Source :
- Re-Unir. Archivo Institucional de la Universidad Internacional de La Rioja, instname
- Publication Year :
- 2021
- Publisher :
- IOS Press BV, 2021.
-
Abstract
- The haploinsufficiency of the methyl-binding domain protein 5 (MBD5) gene has been identified as the determinant cause of the neuropsychiatric disorders grouped under the name MBD5-neurodevelopment disorders (MAND). MAND includes patients with intellectual disability, behavioral problems, and seizures with a static clinical course. However, a few reports have suggested regression. We describe a non-intellectually disabled female, with previous epilepsy and personality disorder, who developed early-onset dementia. The extensive etiologic study revealed a heterozygous nonsense de novo pathogenic variant in the MBD5 gene. This finding could support including the MBD5 gene in the study of patients with atypical early-onset dementia. © 2021 - IOS Press. All rights reserved.
- Subjects :
- media_common.quotation_subject
Nonsense
personality disorder
Bioinformatics
early-onset dementia
Epilepsy
Intellectual disability
Human Phenotype Ontology
Medicine
Dementia
Personality
Scopus
gene
media_common
seizures
MBD5-neurodevelopment disorders
business.industry
General Neuroscience
General Medicine
Mand
medicine.disease
Psychiatry and Mental health
Clinical Psychology
methyl-binding domain protein 5 (MBD5)
JCR
Geriatrics and Gerontology
business
Haploinsufficiency
human phenotype ontology
Subjects
Details
- Language :
- English
- Database :
- OpenAIRE
- Journal :
- Re-Unir. Archivo Institucional de la Universidad Internacional de La Rioja, instname
- Accession number :
- edsair.doi.dedup.....bdf9aa28cdb1f2b4d30a21cb185654ad