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Table 2 Rare FLNC missense variations identified in Belgian FTD patients

From: Investigating the role of filamin C in Belgian patients with frontotemporal dementia linked to GRN deficiency in FTLD-TDP brains

Patient Variant Functional domain Gender Clinical diagnosis Sub-diagnosis Family History Age at onset (years) dbSNP Mutation in known gene
DR554.1 p.R81C CH1 F FTD bvFTD F 56 - GRN p.W304
DR1221.1 p.E309K Ig 1 M FTD PNFA S 45 -  
DR1222.1 p.E323V Ig 1 M FTD bvFTD S 71 -  
DR659.1 p.K524R Ig 3 M FTD bvFTD F 38 - C9orf72 G4C2 exp.
DR454.1 p.D710N Ig 5 F FTD-ALS FTD - ALS F 69 rs370035829 C9orf72 G4C2 exp.
DR1223.1 p.A806T Ig 6 F FTD PSP F 63 -  
ADR1 p.V831I Ig 6 M FTD bvFTD F 52 -  
DR1224.1 p.V1047L Ig 8 F FTD - S 57 -  
AD1485.1 p.P1163R Ig 10 M FTD bvFTD F 76 -  
AD1430.1 p.V1335M Ig 11 M FTD bvFTD S 47 rs368220468  
DR1225.1 p.L1364F Ig 12 F FTD PSP U 83 -  
AD1788.1 p.R1370Q Ig 12 M FTD - S 68 -  
DR867.1 p.A1551T Ig 14 M FTD bvFTD F 77 -  
DR559.1 p.E1571K Ig 14 F FTD bvFTD F 60 - TREM2 p.R47H
DR1226.1 p.E1571K Ig 14 M FTD SD S 75 -  
DR355.1 p.R1758W Linker Ig 15–16 F FTD bvFTD S 75 rs369187211  
DR825.1 p.V2014A Ig 18 F FTD PNFA S 66 -  
AD1462.1 p.T2025I Ig 18 F FTD PPA + EPS S 62 - GRN p.0(IVS1 + 5G > C)
DR1227.1 p.T2025I Ig 18 F CBS CBS U 70 -  
DR868.1 p.R2318Q Ig 21 M FTD PNFA S 71 -  
AD1321.1 p.S2461N Ig 22 F FTD - U 63 -  
  1. bvFTD behavioral variant frontotemporal dementia, CBD corticobasal degeneration, CBS corticobasal syndrome, dbSNP Single Nucleotide Polymorphism database, EPS extrapyramidal syndromes, exp. expansion, F familial, GRN progranulin, PNFA progressive nonfluent aphasia, PPA primary progressive aphasia, PSP progressive supranuclear palsy, S sporadic, TREM2 Triggering receptor expressed on myeloid cells 2, U family history undocumented