Mutations

PSEN1 G378V

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73683837 G>T
dbSNP ID: rs63750323
Coding/Non-Coding: Coding
Genomic Region: Exon 11
Mutation Type: Point, Missense
Codon Change: GGA to GTA

Findings

This mutation was originally identified in a family from the United Kingdom. The family, identified as Family 134, had 13 members affected by Alzheimer’s disease over three generations. The average age of onset was 43 (range: 41-49 years). The mutation was found in three affected family members and was determined to segregate with disease (Janssen et al., 2003).

This mutation was later found in a Hispanic woman from Florida with early onset AD. She had a positive family history but details were not reported. Age of onset is unknown; she died at age 51 (Ravenscroft et al., 2016).

Neuropathology

Some affected members of Family 134 had autopsy-confirmed AD (Janssen et al., 2003).

Biological Effect

Unknown.

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References

Paper Citations

  1. . Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 Jan 28;60(2):235-9. PubMed.
  2. . The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida. Am J Neurodegener Dis. 2016;5(1):94-101. Epub 2016 Mar 1 PubMed.

Further Reading

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Early onset familial Alzheimer's disease: Mutation frequency in 31 families. Neurology. 2003 Jan 28;60(2):235-9. PubMed.

Other mutations at this position

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