Mutations

APP c.*18 C>T

Overview

Pathogenicity: Cerebral Amyloid Angiopathy : Unclear Pathogenicity
Clinical Phenotype: Cerebral Amyloid Angiopathy
Reference Assembly: GRCh37 (105)
Position: Chr21:27253963 C>T
dbSNP ID: rs201729239
Coding/Non-Coding: Non-Coding
Mutation Type: Point
Genomic Region: 3' UTR

Findings

This variant in the 3' UTR of APP was found in one out of 90 cases with cerebral amyloid angiopathy (CAA) (Nicolas et al., 2015). The patient was diagnosed with probable CAA at the age of 58 based on clinical findings and imaging. He presented with an ischemic stroke in his right middle cerebral artery. One month later he developed hematomas in his right temporal and parietal lobes. MRI showed numerous cortical microbleeds along with white-matter hyperintensities. Five years later he had another spontaneous right lobar hematoma. He had no family history of CAA. No additional sequence abnormalities at the APP locus were observed. His APOE genotype was ε2/ε3.

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

Neuropathology

Unknown. Imaging showed an ischemic stroke in the right middle cerebral artery. Later he developed hematomas in his right temporal and parietal lobes. MRI showed numerous cortical microbleeds along with white-matter hyperintensities.

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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