Table 2.
Coding mutations detected in the FTD-like cohort in Mendelian dementia and neuronal ceroid lipofuscinosis genes.
| Gene | Pathaway | Position | Rs ID | cDNA | Aa change | Domain | ExAc | CADD | FTD carriers (tot = 100) (%) | CTRLS Carrier HEX (tot = 368) | Phenotype | AAO |
|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C9orf72 | Dementia | bvFTD | 44 | |||||||||
| GRN | Dementia | chr17:42,427,084 | Novel | c.G314A | p.C105Y | no | 26.5 |
Bari_RA_bvFTD_48 Bari_RMA_bvFTD_51 (2%) |
0 |
bvFTD bvFTD |
57 60 |
|
| GRN | Dementia | chr17:42,429,149 | Novel | c.1165delT | p.C389fs | no | NA | RSA_bvFTD_50 (1%) | 0 | bvFTD | 62 | |
| GRN | Dementia | chr17 :42,427,661 | Reported | c.T415C | p.C139R | no | 24 | RSA_bvFTD_50 (1%) | ||||
| MAPT | Dementia | chr17: 44,067,289 | Reported | c.C1228T | p.L410F | no | 25.2 | CM_bvFTD_60 (1%) | 0 | bvFTD | 55 | |
| VCP | Dementia | chr9:35,062,983- 35,062,985 | Novel | c.801_803del | p.267_268del | No | NA |
Bari_CA_bvFTD_48 PPA_Mpd_01_42 (2%) |
0 |
bvFTD PPA |
59 64 |
|
| TREM2 | Dementia | chr6:41,126,423 | Reported | c.C578A | p.P193Q | No | 5.951 | Bari_DP_PPA_35 (1%) | 0 | PPA | 78 | |
| PRNP | Dementia | chr20:4,680,089- 4,680,112 | Novel | c.223_246del | p.75_82del | No | NA | PPA_03_44 (1%) | 0 | PPA | 66 | |
| PSEN2 | Dementia | chr1:227,083,266 | Novel | c.C1333G | p.Q445E | No | 23.9 | bvFTD_19_35 (1%) | 0 | bvFTD | 69 | |
| SORL1 | Dementia | chr11:121,421,343 | Reported | c.C2230T | p.R744X | VPS10 | No | 38 |
H_II_2 H_II_4 (2%) |
0 | AD with severe language impairment/PPA |
62 69 |
| SORL1 | Dementia | chr11:121,495,891 | Reported | c.G6269T | p.G2090V | No | 28.4 | PPA_04_51 (1%) | 0 | PPA | 55 | |
| SORL1 | Dementia | chr11:121,440,881 | NA | c.G3239A | p.R1080H |
Benign 0.0116 |
23.1 | FTD_AOS_01_59 (1%) | 0 | bvFTD | 49 | |
| CSF1R | Dementia | chr5:149,441,322 | rs376280561 | c.G1717A | p.E573K | TK flanking region |
0.0% Probably-dam |
23.3 | Bari_DFC_bvFTD_35 (1%) | 0 | bvFTD | 78 |
| CSF1R | Dementia | chr5:149,441,393 | Reported | c.G1646A | p.R549H | TK flanking region | No | 23.0 | bvFTD_01_42 (1%) | 0 | bvFTD | 64 |
| CTSD | NCL | chr11:1,775,073 | Reported | c.G1031A | p.G344D | No | 22.6 | bvFTD_10_38 (1%) | 0 | bvFTD | 67 | |
| PPT1 | NCL | chr1:40,555,177 | Reported | c.132delT | p.F44fs | No | NA | bvFTD_03_34 (1%) | 0 | bvFTD | 86 | |
| CLCN6 | NCL | chr1:11,879,611 | Reported | c.T346C | p.S116P |
0.0233 Probably-dam |
23.3 |
E_II_1 E_II_2 E_II_5 (3%) |
0 |
FTD with memory onset PPA bvFTD |
71 68 75 |
|
| SGSH | NCL | chr17:78,184,307 | Reported | c.G1453A | p.G485S | No | 23.5 |
Bari_SA_bvFTD_57 RSA_bvFTD_50 |
0 |
bvFTD bvFTD |
56 62 |
Aa amino-acid, CTRLS controls from HEX database1, AAO age-at onset.