Gene Symbol: TARDBP
OMIM: 605078Chromosome location: 1p36.22
Related informations: NCBI Gene Genome Browser UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
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| Italy | NA | Sardinia | NA | NA | Chiò A et al., 2012Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, Marrosu MG, Murru MR, Majounie E, Renton AE, Abramzon Y, Pugliatti M, Sotgiu MA, Traynor BJ, Borghero G, , . ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.. J. Neurol. Neurosurg. Psychiatr.. 2012; 83(7):730-3 |
| Italy | NA | Sardinia | 30.9% | NA | Orrù S et al., 2012Orrù S, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, Petersen MB, . High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.. Clin. Genet.. 2012; 81(2):172-8 |
| Italy | NA | Sardinia | 28.7% (39 patients/135 patients) | NA | Chiò A et al., 2011Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Nalls MA, Arepalli S, Chong S, Hernandez DG, Traynor BJ, Restagno G, , . Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.. Arch. Neurol.. 2011; 68(5):594-8 |
| Italy | NA | Sardinia | 9 patients | NA | Cannas A et al., 2013Cannas A, Borghero G, Floris GL, Solla P, Chiò A, Traynor BJ, Calvo A, Restagno G, Majounie E, Costantino E, Piras V, Lavra L, Pani C, Orofino G, Di Stefano F, Tacconi P, Mascia MM, Muroni A, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Marrosu F, Marrosu MG, . The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.. Neurogenetics. 2013; 14(2):161-6 |
| Italy | NA | NA | 7 patients/666 patients | NA | Corrado L et al., 2009Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D'Alfonso S, . High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.. Hum. Mutat.. 2009; 30(4):688-94 |
References
Cannas A, Borghero G, Floris GL, Solla P, Chiò A, Traynor BJ, Calvo A, Restagno G, Majounie E, Costantino E, Piras V, Lavra L, Pani C, Orofino G, Di Stefano F, Tacconi P, Mascia MM, Muroni A, Murru MR, Tranquilli S, Corongiu D, Rolesu M, Cuccu S, Marrosu F, Marrosu MG, The p.A382T TARDBP gene mutation in Sardinian patients affected by Parkinson's disease and other degenerative parkinsonisms.Neurogenetics. 2013; 14(2):161-6
Chiò A, Borghero G, Pugliatti M, Ticca A, Calvo A, Moglia C, Mutani R, Brunetti M, Ossola I, Marrosu MG, Murru MR, Floris G, Cannas A, Parish LD, Cossu P, Abramzon Y, Johnson JO, Nalls MA, Arepalli S, Chong S, Hernandez DG, Traynor BJ, Restagno G, , Large proportion of amyotrophic lateral sclerosis cases in Sardinia due to a single founder mutation of the TARDBP gene.Arch. Neurol.. 2011; 68(5):594-8
Chiò A, Restagno G, Brunetti M, Ossola I, Calvo A, Canosa A, Moglia C, Floris G, Tacconi P, Marrosu F, Marrosu MG, Murru MR, Majounie E, Renton AE, Abramzon Y, Pugliatti M, Sotgiu MA, Traynor BJ, Borghero G, , ALS/FTD phenotype in two Sardinian families carrying both C9ORF72 and TARDBP mutations.J. Neurol. Neurosurg. Psychiatr.. 2012; 83(7):730-3
Corrado L, Ratti A, Gellera C, Buratti E, Castellotti B, Carlomagno Y, Ticozzi N, Mazzini L, Testa L, Taroni F, Baralle FE, Silani V, D'Alfonso S, High frequency of TARDBP gene mutations in Italian patients with amyotrophic lateral sclerosis.Hum. Mutat.. 2009; 30(4):688-94
Orrù S, Manolakos E, Orrù N, Kokotas H, Mascia V, Carcassi C, Petersen MB, High frequency of the TARDBP p.Ala382Thr mutation in Sardinian patients with amyotrophic lateral sclerosis.Clin. Genet.. 2012; 81(2):172-8