Mutations

APP c.*372 A>G

Overview

Pathogenicity: Cerebral Amyloid Angiopathy : Not Pathogenic
Clinical Phenotype: Cerebral Amyloid Angiopathy
Reference Assembly: GRCh37 (105)
Position: Chr21:27253609 A>G
dbSNP ID: rs187940037
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Genomic Region: 3' UTR

Findings

This variant in the 3' UTR of APP was found in two out of 90 cases with cerebral amyloid angiopathy (CAA) (Nicolas et al., 2015). It is thought to be a rare benign polymorphism because it has also been found in controls, including in a handful of samples from the 1000 Genomes Project (4/1094).

Of the two mutation carriers with CAA, one experienced symptoms at age 73, including focal subarachnoid hemorrhage, cortical and juxtacortical microbleeds and white-matter hyperintensities. This individual did not have a family history of CAA. APOE genotype was ε3/ε4. The other patient developed symptoms at age 53. Clinical findings included two lobar intracerebral hemorrhages and cortical and juxtacortical microbleeds. APOE genotype was ε4/ε4. The patient’s mother presented with intracerebral hemorrhage at age 83.

Note, this variant is named according to its position in the 3' UTR.

Neuropathology

Unknown. At least two mutation carriers had hemorrhages and microbleeds consistent with CAA. However, this variant has also been detected in control samples.

Biological Effect

Unknown.

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References

Paper Citations

  1. . Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy. Eur J Hum Genet. 2015 Apr 1; PubMed.

Further Reading

No Available Further Reading

Protein Diagram

Primary Papers

  1. . Mutation in the 3'untranslated region of APP as a genetic determinant of cerebral amyloid angiopathy. Eur J Hum Genet. 2015 Apr 1; PubMed.

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