The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
Producción Científica
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|---|---|
| Tipo de recurso: | artículo |
| Estado: | Versión publicada |
| Fecha de publicación: | 2017 |
| País: | España |
| Institución: | Universidad de Valladolid |
| Repositorio: | UVaDOC. Repositorio Documental de la Universidad de Valladolid |
| OAI Identifier: | oai:uvadoc.uva.es:10324/64712 |
| Acceso en línea: | https://doi.org/10.1038/s41598-017-11620-3 https://uvadoc.uva.es/handle/10324/64712 |
| Access Level: | acceso abierto |
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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndromeVidal, SilviaBrandi, NúriaPacheco, PaolaGerotina, EdgarBlasco, LauraTrotta, Jean-RémiDerdak, Sophiadel Mar O’Callaghan, MariaGarcía Cazorla, ÀngelsPineda, MercèArmstrong, JudithAguirre, Francisco JavierAleu, MontserratAlonso, XèniaAlsius, MercèInmaculada Amorós, MariaAntiñolo, GuillermoAquino, LourdesArellano, CarmenArriola, GemaArteaga, RosaBaena, NeusBarcos, MontserratBelzunces, NuriaBoronat, SusanaCamacho, TomásCampistol, Jaumedel Campo, MiguelCampo, AndreaCandau, RamonCanós, IgnacioCarrascosa, María del CarmenCarratalá-Marco, FranciscoCasano, JovaníCastro, PedroCobo, AnaColomer, JaimeConejo, DavidCorrales, Maria JoséCortés, RocíoCruz, GabrielCsányi, Gáborde Santos, María Teresade Toledo, MaríaToro, Mireia DelDomingo, RosarioDuat, AnnaDuque, RosarioEsparza, Ana MaríaFernández, RosaFons, Maria CarmeFontalba, AnaGalán, EnriqueGallano, PiaGamundi, María JoséGarcía, Pedro LuisGarcía, María del MarGarcía-Barcina, MaríaGarcia-Catalan, María JesúsGarcía-Miñaur, SixtoGarcia-Peñas, Juan JoseGarcía-Silva, María TeresaGassio, RosaGeán, EstherGil, BelénGökben, SarenurGonzalez, LuisGonzalez, VeronicaGonzalez, JulietaGonzález, GloriaGuillén, EncarnaGuitart, MiriamGuitet, MontserratGutierrez, Juan ManuelGutiérrez, EvaHerranz, Jose LuísIglesias, GemmaKaracic, IvaLahoz, Carlos H.Lao, José IgnacioLapunzina, PabloLautre-Ecenarro, María JesúsLluch, María DoloresLópez, LauraLópez-Ariztegui, AsunciónMacaya, AlfonsMarín, RosarioMarquez, Charles M. LourençoMartín, ElenaMartínez, BeatrizMartínez-Salcedo, EduardoMas, María JoséMateo, GonzaloMendez, PilarJimenez, Amparo MorantMoreno, SiraMulas, FernandoNarbona, JuanNascimento, AndrésNieto, ManuelNunes, Tania FabiolaNúñez, NúriaObón, MaríaOnsurbe, IgnacioOrtez, Carlos IgnacioOrts, EmilioMartinez, FranciscoParrilla, RafaelPascual, Samuel IgnacioPatiño, AnaPérez-Poyato, MariaPérez-Dueñas, BelénPóo, PilarPuche, EliodoroRamos, FelicianoRaspall, MiquelRoche, AnaRoldan, SusanaRosell, JordiRuiz, CesarRuiz-Falcó, María LuzRussi, Maria EugeniaSamarra, JordiAntonio, Victoria SanSanchez, IvanSanmartin, XavierSans, AnaSantacana, AlfredoScholl-Bürgi, SabineSerrano, NuriaSerrano, MercedesMartin-Tamayo, PilarTendero, AdriánTorrents, JaimeTortosa, DiegoTriviño, EmmaTroncoso, LediaTurrón, EulaliaVázquez, PilarVázquez, CarlosVelázquez, RamónVentura, ClaraVerdú, AlfonsoVernet, AnnaVila, M. TomásVillar, CristinaCancho Candela, RamónProducción CientíficaRett 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 patients with a RTT-like suspicion have been diagnosed. Positive results were found in 30% by Sanger sequencing, 23% with a custom panel, 24% with a commercial panel and 32% with whole exome sequencing. A genetic study using NGS allows the study of a larger number of genes associated with RTT-like symptoms simultaneously, providing genetic study of a wider group of patients as well as significantly reducing the response time and cost of the studyNature2017info:eu-repo/semantics/articleinfo:eu-repo/semantics/publishedVersionapplication/pdfhttps://doi.org/10.1038/s41598-017-11620-3https://uvadoc.uva.es/handle/10324/64712reponame:UVaDOC. Repositorio Documental de la Universidad de Valladolidinstname:Universidad de ValladolidEspañolinfo:eu-repo/semantics/openAccessoai:uvadoc.uva.es:10324/647122026-06-13T12:44:47Z |
| dc.title.none.fl_str_mv |
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| title |
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| spellingShingle |
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome Vidal, Silvia |
| title_short |
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| title_full |
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| title_fullStr |
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| title_full_unstemmed |
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| title_sort |
The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome |
| dc.creator.none.fl_str_mv |
Vidal, Silvia Brandi, Núria Pacheco, Paola Gerotina, Edgar Blasco, Laura Trotta, Jean-Rémi Derdak, Sophia del Mar O’Callaghan, Maria García Cazorla, Àngels Pineda, Mercè Armstrong, Judith Aguirre, Francisco Javier Aleu, Montserrat Alonso, Xènia Alsius, Mercè Inmaculada Amorós, Maria Antiñolo, Guillermo Aquino, Lourdes Arellano, Carmen Arriola, Gema Arteaga, Rosa Baena, Neus Barcos, Montserrat Belzunces, Nuria Boronat, Susana Camacho, Tomás Campistol, Jaume del Campo, Miguel Campo, Andrea Candau, Ramon Canós, Ignacio Carrascosa, María del Carmen Carratalá-Marco, Francisco Casano, Jovaní Castro, Pedro Cobo, Ana Colomer, Jaime Conejo, David Corrales, Maria José Cortés, Rocío Cruz, Gabriel Csányi, Gábor de Santos, María Teresa de Toledo, María Toro, Mireia Del Domingo, Rosario Duat, Anna Duque, Rosario Esparza, Ana María Fernández, Rosa Fons, Maria Carme Fontalba, Ana Galán, Enrique Gallano, Pia Gamundi, María José García, Pedro Luis García, María del Mar García-Barcina, María Garcia-Catalan, María Jesús García-Miñaur, Sixto Garcia-Peñas, Juan Jose García-Silva, María Teresa Gassio, Rosa Geán, Esther Gil, Belén Gökben, Sarenur Gonzalez, Luis Gonzalez, Veronica Gonzalez, Julieta González, Gloria Guillén, Encarna Guitart, Miriam Guitet, Montserrat Gutierrez, Juan Manuel Gutiérrez, Eva Herranz, Jose Luís Iglesias, Gemma Karacic, Iva Lahoz, Carlos H. Lao, José Ignacio Lapunzina, Pablo Lautre-Ecenarro, María Jesús Lluch, María Dolores López, Laura López-Ariztegui, Asunción Macaya, Alfons Marín, Rosario Marquez, Charles M. Lourenço Martín, Elena Martínez, Beatriz Martínez-Salcedo, Eduardo Mas, María José Mateo, Gonzalo Mendez, Pilar Jimenez, Amparo Morant Moreno, Sira Mulas, Fernando Narbona, Juan Nascimento, Andrés Nieto, Manuel Nunes, Tania Fabiola Núñez, Núria Obón, María Onsurbe, Ignacio Ortez, Carlos Ignacio Orts, Emilio Martinez, Francisco Parrilla, Rafael Pascual, Samuel Ignacio Patiño, Ana Pérez-Poyato, Maria Pérez-Dueñas, Belén Póo, Pilar Puche, Eliodoro Ramos, Feliciano Raspall, Miquel Roche, Ana Roldan, Susana Rosell, Jordi Ruiz, Cesar Ruiz-Falcó, María Luz Russi, Maria Eugenia Samarra, Jordi Antonio, Victoria San Sanchez, Ivan Sanmartin, Xavier Sans, Ana Santacana, Alfredo Scholl-Bürgi, Sabine Serrano, Nuria Serrano, Mercedes Martin-Tamayo, Pilar Tendero, Adrián Torrents, Jaime Tortosa, Diego Triviño, Emma Troncoso, Ledia Turrón, Eulalia Vázquez, Pilar Vázquez, Carlos Velázquez, Ramón Ventura, Clara Verdú, Alfonso Vernet, Anna Vila, M. Tomás Villar, Cristina Cancho Candela, Ramón |
| author |
Vidal, Silvia |
| author_facet |
Vidal, Silvia Brandi, Núria Pacheco, Paola Gerotina, Edgar Blasco, Laura Trotta, Jean-Rémi Derdak, Sophia del Mar O’Callaghan, Maria García Cazorla, Àngels Pineda, Mercè Armstrong, Judith Aguirre, Francisco Javier Aleu, Montserrat Alonso, Xènia Alsius, Mercè Inmaculada Amorós, Maria Antiñolo, Guillermo Aquino, Lourdes Arellano, Carmen Arriola, Gema Arteaga, Rosa Baena, Neus Barcos, Montserrat Belzunces, Nuria Boronat, Susana Camacho, Tomás Campistol, Jaume del Campo, Miguel Campo, Andrea Candau, Ramon Canós, Ignacio Carrascosa, María del Carmen Carratalá-Marco, Francisco Casano, Jovaní Castro, Pedro Cobo, Ana Colomer, Jaime Conejo, David Corrales, Maria José Cortés, Rocío Cruz, Gabriel Csányi, Gábor de Santos, María Teresa de Toledo, María Toro, Mireia Del Domingo, Rosario Duat, Anna Duque, Rosario Esparza, Ana María Fernández, Rosa Fons, Maria Carme Fontalba, Ana Galán, Enrique Gallano, Pia Gamundi, María José García, Pedro Luis García, María del Mar García-Barcina, María Garcia-Catalan, María Jesús García-Miñaur, Sixto Garcia-Peñas, Juan Jose García-Silva, María Teresa Gassio, Rosa Geán, Esther Gil, Belén Gökben, Sarenur Gonzalez, Luis Gonzalez, Veronica Gonzalez, Julieta González, Gloria Guillén, Encarna Guitart, Miriam Guitet, Montserrat Gutierrez, Juan Manuel Gutiérrez, Eva Herranz, Jose Luís Iglesias, Gemma Karacic, Iva Lahoz, Carlos H. Lao, José Ignacio Lapunzina, Pablo Lautre-Ecenarro, María Jesús Lluch, María Dolores López, Laura López-Ariztegui, Asunción Macaya, Alfons Marín, Rosario Marquez, Charles M. Lourenço Martín, Elena Martínez, Beatriz Martínez-Salcedo, Eduardo Mas, María José Mateo, Gonzalo Mendez, Pilar Jimenez, Amparo Morant Moreno, Sira Mulas, Fernando Narbona, Juan Nascimento, Andrés Nieto, Manuel Nunes, Tania Fabiola Núñez, Núria Obón, María Onsurbe, Ignacio Ortez, Carlos Ignacio Orts, Emilio Martinez, Francisco Parrilla, Rafael Pascual, Samuel Ignacio Patiño, Ana Pérez-Poyato, Maria Pérez-Dueñas, Belén Póo, Pilar Puche, Eliodoro Ramos, Feliciano Raspall, Miquel Roche, Ana Roldan, Susana Rosell, Jordi Ruiz, Cesar Ruiz-Falcó, María Luz Russi, Maria Eugenia Samarra, Jordi Antonio, Victoria San Sanchez, Ivan Sanmartin, Xavier Sans, Ana Santacana, Alfredo Scholl-Bürgi, Sabine Serrano, Nuria Serrano, Mercedes Martin-Tamayo, Pilar Tendero, Adrián Torrents, Jaime Tortosa, Diego Triviño, Emma Troncoso, Ledia Turrón, Eulalia Vázquez, Pilar Vázquez, Carlos Velázquez, Ramón Ventura, Clara Verdú, Alfonso Vernet, Anna Vila, M. Tomás Villar, Cristina Cancho Candela, Ramón |
| author_role |
author |
| author2 |
Brandi, Núria Pacheco, Paola Gerotina, Edgar Blasco, Laura Trotta, Jean-Rémi Derdak, Sophia del Mar O’Callaghan, Maria García Cazorla, Àngels Pineda, Mercè Armstrong, Judith Aguirre, Francisco Javier Aleu, Montserrat Alonso, Xènia Alsius, Mercè Inmaculada Amorós, Maria Antiñolo, Guillermo Aquino, Lourdes Arellano, Carmen Arriola, Gema Arteaga, Rosa Baena, Neus Barcos, Montserrat Belzunces, Nuria Boronat, Susana Camacho, Tomás Campistol, Jaume del Campo, Miguel Campo, Andrea Candau, Ramon Canós, Ignacio Carrascosa, María del Carmen Carratalá-Marco, Francisco Casano, Jovaní Castro, Pedro Cobo, Ana Colomer, Jaime Conejo, David Corrales, Maria José Cortés, Rocío Cruz, Gabriel Csányi, Gábor de Santos, María Teresa de Toledo, María Toro, Mireia Del Domingo, Rosario Duat, Anna Duque, Rosario Esparza, Ana María Fernández, Rosa Fons, Maria Carme Fontalba, Ana Galán, Enrique Gallano, Pia Gamundi, María José García, Pedro Luis García, María del Mar García-Barcina, María Garcia-Catalan, María Jesús García-Miñaur, Sixto Garcia-Peñas, Juan Jose García-Silva, María Teresa Gassio, Rosa Geán, Esther Gil, Belén Gökben, Sarenur Gonzalez, Luis Gonzalez, Veronica Gonzalez, Julieta González, Gloria Guillén, Encarna Guitart, Miriam Guitet, Montserrat Gutierrez, Juan Manuel Gutiérrez, Eva Herranz, Jose Luís Iglesias, Gemma Karacic, Iva Lahoz, Carlos H. Lao, José Ignacio Lapunzina, Pablo Lautre-Ecenarro, María Jesús Lluch, María Dolores López, Laura López-Ariztegui, Asunción Macaya, Alfons Marín, Rosario Marquez, Charles M. Lourenço Martín, Elena Martínez, Beatriz Martínez-Salcedo, Eduardo Mas, María José Mateo, Gonzalo Mendez, Pilar Jimenez, Amparo Morant Moreno, Sira Mulas, Fernando Narbona, Juan Nascimento, Andrés Nieto, Manuel Nunes, Tania Fabiola Núñez, Núria Obón, María Onsurbe, Ignacio Ortez, Carlos Ignacio Orts, Emilio Martinez, Francisco Parrilla, Rafael Pascual, Samuel Ignacio Patiño, Ana Pérez-Poyato, Maria Pérez-Dueñas, Belén Póo, Pilar Puche, Eliodoro Ramos, Feliciano Raspall, Miquel Roche, Ana Roldan, Susana Rosell, Jordi Ruiz, Cesar Ruiz-Falcó, María Luz Russi, Maria Eugenia Samarra, Jordi Antonio, Victoria San Sanchez, Ivan Sanmartin, Xavier Sans, Ana Santacana, Alfredo Scholl-Bürgi, Sabine Serrano, Nuria Serrano, Mercedes Martin-Tamayo, Pilar Tendero, Adrián Torrents, Jaime Tortosa, Diego Triviño, Emma Troncoso, Ledia Turrón, Eulalia Vázquez, Pilar Vázquez, Carlos Velázquez, Ramón Ventura, Clara Verdú, Alfonso Vernet, Anna Vila, M. Tomás Villar, Cristina Cancho Candela, Ramón |
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Producción Científica |
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2017 |
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