1. Early-Onset Dementia Associated with a Heterozygous, Nonsense, and de novo Variant in the MBD5 Gene.
- Author
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González-Ortega G, Llamas-Velasco S, Arteche-López A, Quesada-Espinosa JF, Puertas-Martín V, Gómez-Grande A, López-Álvarez J, Saiz Díaz RA, Lezana-Rosales JM, Villarejo-Galende A, and González de la Aleja J
- Subjects
- Epilepsy complications, Female, Heterozygote, Humans, Middle Aged, Neuropsychological Tests statistics & numerical data, Personality Disorders complications, Phenotype, Positron Emission Tomography Computed Tomography, Problem Behavior psychology, Codon, Nonsense, DNA-Binding Proteins genetics, Dementia etiology, Dementia genetics, Mutation genetics
- 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.
- Published
- 2021
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