Overview

Pathogenicity: Parkinson's Disease Dementia : Not Classified
Clinical Phenotype: Parkinson's Disease Dementia
Reference Assembly: GRCh37/hg19
Position: Chr21:27269961 C>T
dbSNP ID: rs200260102
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected RNA Consequence: Substitution
Expected Protein Consequence: Missense
Codon Change: ACG to ATG
Reference Isoform: APP Isoform APP770 (770 aa)
Genomic Region: Exon 16

Findings

This variant in APP was detected in one out of 188 individuals with Parkinson’s disease with dementia (Schulte et al., 2015). The individual presented with bradykinesia and dementia, and also developed rigor and postural instability but no resting tremor. Three aunts also had Parkinson’s disease, but further details were not reported. The variant was absent in 188 PD cases without dementia and 376 controls.

Four heterozygous carriers of this variant were found in the gnomAD database (version 2.1.1, Oct 2021), three from the European (non-Finnish) population.

Neuropathology

Unknown.

Biological Effect

The biological effects of this variant are unknown, but the PHRED-scaled CADD score, which integrates diverse information in silico, was above 20, suggesting a deleterious effect (CADD v.1.6, Oct 2021).

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References

Paper Citations

1. Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease. Eur J Hum Genet. 2015 Jan 21; PubMed.

Further Reading

No Available Further Reading