Overview

Clinical Phenotype: Alzheimer's Disease
Position: (GRCh38/hg38):Chr11:121514160_121514167 CATCGCAG>--------
Position: (GRCh37/hg19):Chr11:121384869_121384876 CATCGCAG>--------
dbSNP ID: NA
Coding/Non-Coding: Coding
DNA Change: Deletion
Reference Isoform: SORL1 Isoform 1 (2214 aa)
Genomic Region: Exon 8

Findings

This deletion results in a frameshift that introduces a premature stop codon, and it is classified as pathogenic by the criteria of Holstege et al. (Holstege et al., 2017).

In a pan-European cohort of 1255 early onset Alzheimer’s disease cases and 1938 age-matched controls, a female Spanish patient (age of onset 65 years) was found to be a heterozygous carrier of this deletion (Verheijen, et al., 2016).

The deletion was not found in a Dutch cohort consisting of 640 AD cases and 1268 controls (Holstege et al., 2017).

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References

Paper Citations

1. Holstege H, van der Lee SJ, Hulsman M, Wong TH, van Rooij JG, Weiss M, Louwersheimer E, Wolters FJ, Amin N, Uitterlinden AG, Hofman A, Ikram MA, van Swieten JC, Meijers-Heijboer H, van der Flier WM, Reinders MJ, van Duijn CM, Scheltens P. Characterization of pathogenic SORL1 genetic variants for association with Alzheimer's disease: a clinical interpretation strategy. Eur J Hum Genet. 2017 Aug;25(8):973-981. Epub 2017 May 24 PubMed.
2. Verheijen J, Van den Bossche T, van der Zee J, Engelborghs S, Sanchez-Valle R, Lladó A, Graff C, Thonberg H, Pastor P, Ortega-Cubero S, Pastor MA, Benussi L, Ghidoni R, Binetti G, Clarimon J, Lleó A, Fortea J, de Mendonça A, Martins M, Grau-Rivera O, Gelpi E, Bettens K, Mateiu L, Dillen L, Cras P, De Deyn PP, Van Broeckhoven C, Sleegers K. A comprehensive study of the genetic impact of rare variants in SORL1 in European early-onset Alzheimer's disease. Acta Neuropathol. 2016 Aug;132(2):213-24. Epub 2016 Mar 30 PubMed.

Further Reading

No Available Further Reading