Mutations

PSEN1 P267L

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73664769 C>T
dbSNP ID: rs63750779
Coding/Non-Coding: Coding
Genomic Region: Exon 8
Mutation Type: Point, Missense
Codon Change: CCA to CTA

Findings

This mutation was identified in a Polish individual who met clinical criteria (NINCDS-ADRDA) for AD (Kowalska et al., 2003). This individual had a family history of dementia and belonged to a pedigree referred to as “H.A.” The reported pedigree shows seven affected individuals over three generations (Kowalska et al., 2004). Segregation with disease could not be established due to lack of DNA from family members. The mutation carrier experienced symptom onset at age 59. APOE genotype was 3/3; further clinical details were not reported.

Neuropathology

Unknown.

Biological Effect

Unknown.

Comments

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References

Paper Citations

  1. . Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region. J Appl Genet. 2003;44(2):231-4. PubMed.
  2. . Genetic study of familial cases of Alzheimer's disease. Acta Biochim Pol. 2004;51(1):245-52. PubMed.

Further Reading

Papers

  1. . Presenilin 1 mutations in Polish families with early-onset Alzheimer's disease. Folia Neuropathol. 2004;42(1):9-14. PubMed.

Learn More

  1. Alzheimer Disease & Frontotemporal Dementia Mutation Database

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Primary Papers

  1. . Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region. J Appl Genet. 2003;44(2):231-4. PubMed.

Other mutations at this position

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