Mutations

PSEN2 K82fs

Overview

Pathogenicity: Tauopathy consistent with Pick's Disease : Not Classified
Clinical Phenotype: Frontotemporal Dementia
Reference Assembly: GRCh37/hg19
Position: Chr1:227071509 AA>--
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Deletion
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.

Last Updated: 01 Nov 2021

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References

Paper Citations

  1. . 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

Protein Diagram

Primary Papers

  1. . 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.

Other mutations at this position

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