Mutations

PSEN1 869-2A>G

Overview

Pathogenicity: Behavioral variant FTD : Pathogenic
Clinical Phenotype: Behavioral variant FTD
Reference Assembly: GRCh37 (105)
Position: Chr14:73673092 A>G
dbSNP ID: NA
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Genomic Region: Intron 8/11

Findings

This substitution was identified in a search for mutations in 121 unrelated and unselected Caucasian subjects who had been diagnosed with clinical frontotemporal dementia (FTD) syndromes (Blauwendraat et al., 2017). The search focused on a group of genes known to contribute to FTD as well as other neurodegenerative diseases. The carrier of this mutation was diagnosed with behavioral variant FTD and had reduced CSF Aβ42 (199 pg/ml). The mutation maps to a splice site adjacent to the 5' end of exon 9. It is predicted to be pathogenic by CADD and DANN in silico analyses.

Last Updated: 21 Feb 2019

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References

Paper Citations

  1. . The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genet Med. 2017 Jul 27; PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects. Genet Med. 2017 Jul 27; PubMed.

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