Mutations

PSEN1 I408T

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73683927 T>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Mutation Type: Point, Missense
Codon Change: ATA to ACA
Reference Isoform: PSEN1 isoform 1 (467 aa)
Genomic Region: Exon 11

Findings

This mutation was identified in two Italian sisters in a family with a history of late-onset Alzheimer's disease (Tedde et al., 2015). The proband met DSM-IV criteria for probable AD after experiencing symptom onset at the age of 73. Her younger sister, who also carried the mutation, was beginning to show signs of memory impairment at the age of 72. Segregation with disease could not be determined in this family, although there was a positive family history. The proband’s mother had died at age 72 following a stroke, and she reportedly suffered from mild cognitive impairment. Another sister had late-onset AD, starting at age 85, but refused genetic testing.

Neuropathology

Unknown. MRI of the proband showed marked enlargement of the lateral ventricles and hippocampal atrophy typical of AD

Biological Effect

Unknown. In silico this mutation is predicted to be damaging.

Last Updated: 20 Nov 2015

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References

Paper Citations

  1. . Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease. Neurosci Lett. 2016 Jan 1;610:150-3. Epub 2015 Nov 5 PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Novel presenilin 1 mutation (Ile408Thr) in an Italian family with late-onset Alzheimer's disease. Neurosci Lett. 2016 Jan 1;610:150-3. Epub 2015 Nov 5 PubMed.

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