Overview

Pathogenicity: Tauopathy consistent with Pick's Disease : Not Classified
Clinical Phenotype: Frontotemporal Dementia
Position: (GRCh38/hg38):Chr1:226883808_226883809 AA>--
Position: (GRCh37/hg19):Chr1:227071509_227071510 AA>--
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Deletion
Expected RNA Consequence: Deletion
Expected Protein Consequence: Frame Shift
Codon Change: AAA to A--
Reference Isoform: PSEN2 Isoform 1 (448 aa)
Genomic Region: Exon 5

Findings

This mutation was identified in a Belgian patient with frontotemporal dementia (Perrone et al., 2018). It was absent from the gnomAD variant database (v2.1.1, Nov 2021).

Neuropathology
Neuropathology included neurofibrillary tangles consistent with Pick’s disease.

Biological Effect
Compared with wild-type PSEN2 levels, those of the mutant protein were reduced in the frontal cortex and hippocampus.

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References

Paper Citations

1. Perrone F, Cacace R, Van Mossevelde S, Van den Bossche T, De Deyn PP, Cras P, Engelborghs S, van der Zee J, Van Broeckhoven C. Genetic screening in early-onset dementia patients with unclear phenotype: relevance for clinical diagnosis. Neurobiol Aging. 2018 Sep;69:292.e7-292.e14. Epub 2018 May 9 PubMed.

Further Reading

No Available Further Reading