Gene Symbol: C9ORF72
OMIM: 614260Chromosome location: 9p21.2
Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD | Population | Ethnic Group | Region | Mutation Frquency | Coalescence Time | Reference |
|---|
| Italy | NA | NA | 20% | 6300 years ago | Smith BN et al., 2013Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH, Weale ME, Al-Chalabi A, Shaw CE, . The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.. Eur. J. Hum. Genet.. 2013; 21(1):102-8 |
| 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 | NA | 23.9% of patients with familial ALS (62/259 patients) | NA | Ratti A et al., 2012Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S, Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S, Gellera C, Silani V, , . C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.. Neurobiol. Aging. 2012; 33(10):2528.e7-14 |
| Spain | NA | NA | 8.2% (9 patients/109 patients) | NA | Gómez-Tortosa E et al., 2013Gómez-Tortosa E, Gallego J, Guerrero-López R, Marcos A, Gil-Neciga E, Sainz MJ, Díaz A, Franco-Macías E, Trujillo-Tiebas MJ, Ayuso C, Pérez-Pérez J, . C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.. Neurology. 2013; 80(4):366-70 |
References
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
Gómez-Tortosa E, Gallego J, Guerrero-López R, Marcos A, Gil-Neciga E, Sainz MJ, Díaz A, Franco-Macías E, Trujillo-Tiebas MJ, Ayuso C, Pérez-Pérez J, C9ORF72 hexanucleotide expansions of 20-22 repeats are associated with frontotemporal deterioration.Neurology. 2013; 80(4):366-70
Ratti A, Corrado L, Castellotti B, Del Bo R, Fogh I, Cereda C, Tiloca C, D'Ascenzo C, Bagarotti A, Pensato V, Ranieri M, Gagliardi S, Calini D, Mazzini L, Taroni F, Corti S, Ceroni M, Oggioni GD, Lin K, Powell JF, Sorarù G, Ticozzi N, Comi GP, D'Alfonso S, Gellera C, Silani V, , C9ORF72 repeat expansion in a large Italian ALS cohort: evidence of a founder effect.Neurobiol. Aging. 2012; 33(10):2528.e7-14
Smith BN, Newhouse S, Shatunov A, Vance C, Topp S, Johnson L, Miller J, Lee Y, Troakes C, Scott KM, Jones A, Gray I, Wright J, Hortobágyi T, Al-Sarraj S, Rogelj B, Powell J, Lupton M, Lovestone S, Sapp PC, Weber M, Nestor PJ, Schelhaas HJ, Asbroek AA, Silani V, Gellera C, Taroni F, Ticozzi N, Van den Berg L, Veldink J, Van Damme P, Robberecht W, Shaw PJ, Kirby J, Pall H, Morrison KE, Morris A, de Belleroche J, Vianney de Jong JM, Baas F, Andersen PM, Landers J, Brown RH, Weale ME, Al-Chalabi A, Shaw CE, The C9ORF72 expansion mutation is a common cause of ALS+/-FTD in Europe and has a single founder.Eur. J. Hum. Genet.. 2013; 21(1):102-8