dc.contributor | Vall d'Hebron Barcelona Hospital Campus |
dc.contributor.author | Aguilera, Cinthia |
dc.contributor.author | Gabau, Elisabeth |
dc.contributor.author | Ramirez-Mallafre, Ariadna |
dc.contributor.author | Brun-Gasca, Carme |
dc.contributor.author | Dominguez-Carral, Jana |
dc.contributor.author | Delgadillo, Veronica |
dc.contributor.author | Padilla Sirera, Natalia |
dc.contributor.author | De la Cruz Montserrat, Fco. Xavier |
dc.date.accessioned | 2022-04-04T11:56:26Z |
dc.date.available | 2022-04-04T11:56:26Z |
dc.date.issued | 2021-10-15 |
dc.identifier.citation | Aguilera C, Gabau E, Ramirez-Mallafré A, Brun-Gasca C, Dominguez-Carral J, Delgadillo V, et al. New genes involved in Angelman syndrome-like: Expanding the genetic spectrum. PLoS One. 2021 Oct 15;16(10):e0258766. |
dc.identifier.issn | 1932-6203 |
dc.identifier.uri | https://hdl.handle.net/11351/7292 |
dc.description | Angelman syndrome; Phenotype |
dc.description.abstract | Angelman syndrome (AS) is a neurogenetic disorder characterized by severe developmental delay with absence of speech, happy disposition, frequent laughter, hyperactivity, stereotypies, ataxia and seizures with specific EEG abnormalities. There is a 10–15% of patients with an AS phenotype whose genetic cause remains unknown (Angelman-like syndrome, AS-like). Whole-exome sequencing (WES) was performed on a cohort of 14 patients with clinical features of AS and no molecular diagnosis. As a result, we identified 10 de novo and 1 X-linked pathogenic/likely pathogenic variants in 10 neurodevelopmental genes (SYNGAP1, VAMP2, TBL1XR1, ASXL3, SATB2, SMARCE1, SPTAN1, KCNQ3, SLC6A1 and LAS1L) and one deleterious de novo variant in a candidate gene (HSF2). Our results highlight the wide genetic heterogeneity in AS-like patients and expands the differential diagnosis. |
dc.language.iso | eng |
dc.publisher | Public Library of Science |
dc.relation.ispartofseries | PLoS ONE;16(10) |
dc.rights | Attribution 4.0 International |
dc.rights.uri | http://creativecommons.org/licenses/by/4.0/ |
dc.source | Scientia |
dc.subject | Angelman, Síndrome d' - Aspectes genètics |
dc.subject | Genòmica |
dc.subject | Malalties congènites |
dc.subject.mesh | Angelman Syndrome |
dc.subject.mesh | /genetics |
dc.subject.mesh | Whole Exome Sequencing |
dc.title | New genes involved in Angelman syndrome-like: Expanding the genetic spectrum |
dc.type | info:eu-repo/semantics/article |
dc.identifier.doi | 10.1371/journal.pone.0258766 |
dc.subject.decs | síndrome de Angelman |
dc.subject.decs | /genética |
dc.subject.decs | secuenciación del exoma completo |
dc.relation.publishversion | https://doi.org/10.1371/journal.pone.0258766 |
dc.type.version | info:eu-repo/semantics/publishedVersion |
dc.audience | Professionals |
dc.contributor.organismes | Institut Català de la Salut |
dc.contributor.authoraffiliation | [Aguilera C] Genetics Laboratory, UDIAT-Centre Diagnòstic, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. [Gabau E, Ramirez-Mallafré A, Dominguez-Carral J, Delgadillo V] Paediatric Unit, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. [Brun-Gasca C] Paediatric Unit, Parc Taulí Hospital Universitari, Institut d’Investigació i Innovació Parc Taulí I3PT, Universitat Autònoma de Barcelona, Sabadell, Spain. Departament de Psicologia Clínica i Psicologia de la Salut, Universitat Autònoma de Barcelona, Bellaterra, Spain. [Padilla N] Àrea de Neurociències, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. [de la Cruz X] Àrea de Neurociències, Vall d’Hebron Institut de Recerca (VHIR), Barcelona, Spain. Universitat Autònoma de Barcelona, Bellaterra, Spain. Institució Catalana de Recerca i Estudis Avançats (ICREA), Barcelona, Spain |
dc.identifier.pmid | 34653234 |
dc.identifier.wos | 000755689200047 |
dc.relation.projectid | info:eu-repo/grantAgreement/ES/PE2013-2016/SAF2016-80255-R |
dc.rights.accessrights | info:eu-repo/semantics/openAccess |