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The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome

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dc.contributor.author Vidal, Silvia
dc.contributor.author Brandi, Núria
dc.contributor.author Pacheco, Paola
dc.contributor.author Gerotina, Edgar
dc.contributor.author Blasco, Laura
dc.contributor.author Trotta, Jean-Remi
dc.contributor.author Derdak, Sophia
dc.contributor.author del Mar O'Callaghan, María
dc.contributor.author García Cazorla, Àngels
dc.contributor.author Pineda, Mercè
dc.contributor.author Armstrong, Judith
dc.contributor.author Rett Working Group
dc.date.accessioned 2018-07-18T07:59:08Z
dc.date.available 2018-07-18T07:59:08Z
dc.date.issued 2017
dc.identifier.citation Vidal S, Brandi N, Pacheco P, Gerotina E, Blasco L, Trotta JR et al. Rett Working Group. The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome. Sci Rep. 2017 Sep 25;7(1):12288. DOI: 10.1038/s41598-017-11620-3
dc.identifier.issn 2045-2322
dc.identifier.uri http://hdl.handle.net/10230/35187
dc.description.abstract 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 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 study.
dc.format.mimetype application/pdf
dc.language.iso eng
dc.publisher Nature Publishing Group
dc.relation.ispartof Sci Rep. 2017 Sep 25;7(1):12288
dc.rights © The Author(s) 2017. Open Access. This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article's Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article's Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
dc.rights.uri http://creativecommons.org/licenses/by/4.0/
dc.title The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome
dc.type info:eu-repo/semantics/article
dc.identifier.doi http://dx.doi.org/10.1038/s41598-017-11620-3
dc.subject.keyword Rett syndrome
dc.subject.keyword Neurodevelopmental disorders
dc.subject.keyword Massively-parallel sequencing
dc.rights.accessRights info:eu-repo/semantics/openAccess
dc.type.version info:eu-repo/semantics/publishedVersion


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