A novel MBD5 mutation in an intellectually disabled adult female patient with epilepsy: Suggestive of early onset dementia?
Willem M A VerhoevenJos EggerJanneke KippJiska Verheul-Aan de WielCharlotte OckeloenTjitske KleefstraRolph PfundtPublished in: Molecular genetics & genomic medicine (2019)
The presented patient is the second with a pathogenic MBD5 mutation in whom the course of disease is suggestive of early onset dementia starting in her fifth decade. These findings stress the importance of exome sequencing, also in elderly intellectually disabled patients, particularly in those with autism.
Keyphrases
- early onset
- late onset
- end stage renal disease
- mild cognitive impairment
- case report
- cognitive impairment
- ejection fraction
- newly diagnosed
- chronic kidney disease
- autism spectrum disorder
- peritoneal dialysis
- prognostic factors
- intellectual disability
- single cell
- gene expression
- copy number
- patient reported outcomes
- community dwelling