Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121622228 A>G
Position: (GRCh37/hg19):Chr11:121492937 A>G
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Substitution
Expected Protein Consequence: Missense
Codon Change: AAA to AGA
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 45

Findings

This variant, in heterozygosity, was identified in a Hungarian man diagnosed with early onset Alzheimer's disease (Csaban et al., 2022). Cognitive deficits and visuospatial disorientation were noted, with symptom onset at 64 years. His APOE genotype is E3/E4, and a family history of dementia was repeorted—with the proband's father and uncle affected (Mária Judit Molnár, personal communication).

The variant was absent from 137 controls selected from Hungarian biobanks and was not found in gnomAD (v2.1.1).

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References

Paper Citations

1. Csaban D, Illes A, Renata TB, Balicza P, Pentelenyi K, Molnar V, Gezsi A, Grosz Z, Gal A, Kovacs T, Klivenyi P, Molnar MJ. Genetic landscape of early-onset dementia in Hungary. Neurol Sci. 2022 Sep;43(9):5289-5300. Epub 2022 Jun 25 PubMed.

Further Reading

No Available Further Reading