Table 5.
List of mutations in GRN and their characteristic phenotypes.
| Subtypes of Dementia | Mutation | Change in amino acid | Type | References |
|---|---|---|---|---|
| FTD | delGRN[DR184] | Complete gene deletion | Pathogenic | Gijselinck et al., 2008 |
| FTD | c.-7-20C>T | INTRON | Suggesting Pathogenic | Kim et al., 2010a |
| FTD | c.349 + 34C > T | INTRON | Suggesting Pathogenic | Kim et al., 2010a |
| FTD | IVS6+5_8delGTGA | N/A | Unclear | Marcon et al., 2011; Skoglund et al., 2011 |
| FTD | c.1138C>G | Q380E | Unclear | Kim et al., 2014 |
| FTD | g.2988_2989delCA | P439_R440fsX6 | Pathogenic | Gabryelewicz et al., 2010 |
| FTD | g.5215A>T | Complete protein degradation | Pathogenic | Le Ber et al., 2007 |
| FTD | g.5217G>C | Complete protein degradation | Pathogenic | Cruts et al., 2006 |
| FTD | g.5913A>G | INTRON | Pathogenic | Mukherjee et al., 2008 |
| FTD/PD | g.8948_12532del | Complete protein deletion | Pathogenic | Rovelet-Lecrux et al., 2008 |
| FTD | g.9044T>C | Predicted failed translation | Pathogenic | Baker et al., 2006 |
| FTD | g.9045G>A | Predicted failed translation | Pathogenic | Cruts et al., 2006 |
| FTD/MND | g.9055G>C | V5L | Unclear | Lopez de Munain et al., 2008 |
| FTD | g.9061T>C | W7R | Unclear | Le Ber et al., 2007 |
| FTD/PPA | g.9068C>A | A9D | Pathogenic | Mukherjee et al., 2006 |
| FTD | g.9132_9133insCTGC | C31LfsX35 | Pathogenic | Baker et al., 2006 |
| FTD/PPA | g.9144delC | G35EfsX19 | Pathogenic | Gass et al., 2006 |
| FTD | g.9181G>A | Failed translation initiation | Pathogenic | Gass et al., 2006 |
| FTD/AD | g.9319delA | T52HfsX2 | Pathogenic | Gass et al., 2006 |
| FTD | g.9399_9400delAG | G79DfsX39 | Pathogenic | Gass et al., 2006 |
| FTD | g.9408delC | S82VfsX174 | Pathogenic | Bronner et al., 2007 |
| FTD | g.9429G>A | E88 | Unclear | Gass et al., 2006 |
| FTD | g.9593T>C | C105R | Unclear | Gass et al., 2006 |
| FTD | g.10129C>T | Q125X | Pathogenic | Baker et al., 2006 |
| FTD | g.10134 C>G | C126W | Unclear | Bernardi et al., 2012 |
| FTD | g.10136_10137delCT | P127RfsX2 | Pathogenic | Cruts et al., 2006 |
| FTD | g.10144_10147delCAGT | Q130SfsX125 | Pathogenic | Baker et al., 2006 |
| FTD | g.10319G>A | A155WfsX56 | Pathogenic | Gass et al., 2006 |
| FTD/PPA | g.10645_10646delCA | S226WfsX28 | Pathogenic | Gass et al., 2006 |
| FTD | g.10668C>A | P233Q | Unclear | Bronner et al., 2007 |
| FTD | g.10678C>T | N236 | Unclear | Gass et al., 2006 |
| FTD | g.10679G>C | V200GfsX18 | Pathogenic | Gass et al., 2006 |
| FTD | g.10965_10966delTG | C253X | Pathogenic | Gass et al., 2006 |
| FTD | g.11002 G>C | A266P | Unclear | Bernardi et al., 2012 |
| FTD | g.11041_11042insCTGA | A237WfsX4 | Pathogenic | Cruts et al., 2006 |
| FTD/CBS | g.11240G>C | V279GfsX5 | Pathogenic | Gass et al., 2006 |
| FTD | g.11266G>C | E287D | Unclear | Gass et al., 2006 |
| FTD | g.11315_11316insTG | W304LfsX58 | Pathogenic | Gass et al., 2006 |
| FTD | g.11316G>A | W304X | Pathogenic | Gass et al., 2006 |
| FTD | g.11339G>A | V279GfsX5 | Pathogenic | Baker et al., 2006 |
| FTD/CBS | g.11639delC | T382SfsX30 | Pathogenic | Baker et al., 2006 |
| FTD | g.11651G>A | W386X | Pathogenic | Baker et al., 2006 |
| FTD | g.11944_11945delGT | V411SfsX2 | Pathogenic | Bronner et al., 2007 |
| FTD | g.11965C>T | R418X | Pathogenic | Baker et al., 2006 |
| FTD | g.12054C>T | H447 | Unclear | Bronner et al., 2007 |
| FTD | g.12108_12109insC | C466LfsX46 | Pathogenic | Gass et al., 2006 |
| FTD | g.12115C>T | Q468X | Pathogenic | Baker et al., 2006 |
| FTD | g.12227C>T | C474 | Unclear | Gass et al., 2006 |
| FTD | g.12282C>T | R493X | Pathogenic | Huey et al., 2006 |
| FTD | g.12428G>C | W541C | Unclear | Bronner et al., 2007 |
AD, Alzheimers disease; CBS, Corticobasal syndrome; FTD, Frontotemporal Dementia; PPA, Primary progressive aphasia; MND, Motor neuron disease; PD, Parkinsons disease.
All the information reported in the table is derived from a cumulative study of the literature and the database: http://www.molgen.ua.ac.be/ADMutations/default.cfm?MT=0&ML=2&Page=FTD.