Mutations

PSEN1 G209A

Overview

Pathogenicity: Alzheimer's Disease : Pathogenic
Clinical Phenotype: Alzheimer's Disease
Reference Assembly: GRCh37 (105)
Position: Chr14:73659429 G>C
dbSNP ID: NA
Coding/Non-Coding: Coding
Genomic Region: Exon 7
Mutation Type: Point, Missense
Codon Change: GGA to GCA

Findings

This mutation was found in a Korean woman with early onset Alzheimer’s disease (An et al., 2016). She presented with mild cognitive impairment and depression in her 40s. Her APOE genotype was E3/E3. Her mother had been diagnosed with a unspecified dementia, also in her 40s, and had died by age 60. The proband’s father and brother were unaffected. Segregation with disease could not be determined. One of the proband’s two daughters was a mutation carrier; she was asymptomatic in her 20s.

Neuropathology

Unknown. MRI showed global cortical atrophy, most prominent in the medial, temporal, and parietal lobes. FDG-PET revealed widespread bilateral hypometabolism, including in the temporal,  parietal, and frontal lobes.

Biological Effect

Unknown. In silico, this mutation was predicted likely damaging by PolyPhen2.

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References

Paper Citations

  1. . Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. BMC Neurol. 2016 May 20;16:71. PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Novel PSEN1 G209A mutation in early-onset Alzheimer dementia supported by structural prediction. BMC Neurol. 2016 May 20;16:71. PubMed.

Other mutations at this position

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