PMID: 27312774

Next-generation sequencing reveals substantial genetic contribution to dementia with Lewy bodies.

Neurobiology of disease
Geiger, Joshua T JT, Ding, Jinhui J, Crain, Barbara B, Pletnikova, Olga O, Letson, Christopher C, Dawson, Ted M TM, Rosenthal, Liana S LS, Pantelyat, Alexander A, Gibbs, J Raphael JR, Albert, Marilyn S MS, Hernandez, Dena G DG, Hillis, Argye E AE, Stone, David J DJ, Singleton, Andrew B AB, , , Hardy, John A JA, Troncoso, Juan C JC, Scholz, Sonja W SW
2016-10

9 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-155207244-C-T GBA c.887G>A p.R296Q Missense 7/11 -
1-227071406-AG-CA PSEN2 c.142_143delAGinsCA p.R48Q Missense 5/13 -
21-27284167-C-T APP c.1795G>A p.E599K Missense 14/18 -
1-155209724-C-T GBA c.260G>A p.R87Q Missense 3/11 -
4-77091024-T-C SCARB2 c.1109A>G p.N370S Missense 8/12 -
1-155205518-C-G GBA c.1342G>C p.D448H Missense 9/11 -
14-73673178-A-G PSEN1 c.953A>G p.E318G Missense 9/12 -
14-73659420-G-C PSEN1 c.617G>C p.G206A Missense 7/12 -
19-45411110-T-C APOE c.137T>C p.L46P Missense 3/4 -