The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
- Vidal, S.
- Brandi, N.
- Pacheco, P.
- Gerotina, E.
- Blasco, L.
- Trotta, J.-R.
- Derdak, S.
- Del Mar O''Callaghan, M.
- Garcia-Cazorla, À.
- Pineda, M.
- Armstrong, J.
- Aguirre, F.J.
- Aleu, M.
- Alonso, X.
- Alsius, M.
- Inmaculada Amorós, M.
- Antiñolo, G.
- Aquino, L.
- Arellano, C.
- Arriola, G.
- Arteaga, R.
- Baena, N.
- Barcos, M.
- Belzunces, N.
- Boronat, S.
- Camacho, T.
- Campistol, J.
- Del Campo, M.
- Campo, A.
- Cancho, R.
- Candau, R.
- Canós, I.
- Carrascosa, M.D.C.
- Carratalá-Marco, F.
- Casano, J.
- Castro, P.
- Cobo, A.
- Colomer, J.
- Conejo, D.
- Corrales, M.J.
- Cortés, R.
- Cruz, G.
- Csányi, G.
- De Santos, M.T.
- De Toledo, M.
- Toro, M.D.
- Domingo, R.
- Duat, A.
- Duque, R.
- Esparza, A.M.
- Fernández, R.
- Fons, M.C.
- Fontalba, A.
- Galán, E.
- Gallano, P.
- Gamundi, M.J.
- García, P.L.
- García, M.D.M.
- García-Barcina, M.
- Garcia-Catalan, M.J.
- García-Miñaur, S.
- Garcia-Peñas, J.J.
- García-Silva, M.T.
- Gassio, R.
- Geán, E.
- Gil, B.
- Gökben, S.
- Gonzalez, L.
- Gonzalez, V.
- Gonzalez, J.
- González, G.
- Guillén, E.
- Guitart, M.
- Guitet, M.
- Gutierrez, J.M.
- Gutiérrez, E.
- Herranz, J.L.
- Iglesias, G.
- Karacic, I.
- Lahoz, C.H.
- Lao, J.I.
- Lapunzina, P.
- Lautre-Ecenarro, M.J.
- Lluch, M.D.
- López, L.
- López-Ariztegui, A.
- Macaya, A.
- Marín, R.
- Marquez, C.M.L.
- Martín, E.
- Martínez, B.
- Martínez-Salcedo, E.
- Mas, M.J.
- Mateo, G.
- Mendez, P.
- Jimenez, A.M.
- Moreno, S.
- Mulas, F.
- Narbona, J.
- Nascimento, A.
- Nieto, M.
- Nunes, T.F.
- Núñez, N.
- Obón, M.
- Onsurbe, I.
- Ortez, C.I.
- Orts, E.
- Martinez, F.
- Parrilla, R.
- Pascual, S.I.
- Patiño, A.
- Pérez-Poyato, M.
- Pérez-Dueñas, B.
- Póo, P.
- Puche, E.
- Ramos, F.
- Raspall, M.
- Roche, A.
- Roldan, S.
- Rosell, J.
- Ruiz, C.
- Ruiz-Falcó, M.L.
- Russi, M.E.
- Samarra, J.
- Antonio, V.S.
- Sanchez, I.
- Sanmartin, X.
- Sans, A.
- Santacana, A.
- Scholl-Bürgi, S.
- Serrano, N.
- Serrano, M.
- Martin-Tamayo, P.
- Tendero, A.
- Torrents, J.
- Tortosa, D.
- Triviño, E.
- Troncoso, L.
- Turrón, E.
- Vázquez, P.
- Vázquez, C.
- Velázquez, R.
- Ventura, C.
- Verdú, A.
- Vernet, A.
- Vila, M.T.
- Villar, C.
DOIAbstract
Rett syndrome (RTT) is an early-onset neurodevelopmental disorder that almost exclusively affects girls and is totally disabling. Three genes have been identified that cause RTT: MECP2, CDKL5 and FOXG1. However, the etiology of some of RTT patients still remains unknown. Recently, next generation sequencing (NGS) has promoted genetic diagnoses because of the quickness and affordability of the method. To evaluate the usefulness of NGS in genetic diagnosis, we present the genetic study of RTT-like patients using different techniques based on this technology. We studied 1577 patients with RTT-like clinical diagnoses and reviewed patients who were previously studied and thought to have RTT genes by Sanger sequencing. Genetically, 477 of 1577 pa...
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