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dc.contributorVall d'Hebron Barcelona Hospital Campus
dc.contributor.authorAguilera, Cinthia
dc.contributor.authorGabau, Elisabeth
dc.contributor.authorRamirez-Mallafre, Ariadna
dc.contributor.authorBrun-Gasca, Carme
dc.contributor.authorDominguez-Carral, Jana
dc.contributor.authorDelgadillo, Veronica
dc.contributor.authorPadilla Sirera, Natalia
dc.contributor.authorDe la Cruz Montserrat, Fco. Xavier
dc.date.accessioned2022-04-04T11:56:26Z
dc.date.available2022-04-04T11:56:26Z
dc.date.issued2021-10-15
dc.identifier.citationAguilera 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.issn1932-6203
dc.identifier.urihttp://hdl.handle.net/11351/7292
dc.descriptionAngelman syndrome; Phenotype
dc.description.abstractAngelman 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.isoeng
dc.publisherPublic Library of Science
dc.relation.ispartofseriesPLoS ONE;16(10)
dc.rightsAttribution 4.0 International
dc.rights.urihttp://creativecommons.org/licenses/by/4.0/
dc.sourceScientia
dc.subjectAngelman, Síndrome d' - Aspectes genètics
dc.subjectGenòmica
dc.subjectMalalties congènites
dc.subject.meshAngelman Syndrome
dc.subject.mesh/genetics
dc.subject.meshWhole Exome Sequencing
dc.titleNew genes involved in Angelman syndrome-like: Expanding the genetic spectrum
dc.typeinfo:eu-repo/semantics/article
dc.identifier.doi10.1371/journal.pone.0258766
dc.subject.decssíndrome de Angelman
dc.subject.decs/genética
dc.subject.decssecuenciación del exoma completo
dc.relation.publishversionhttps://doi.org/10.1371/journal.pone.0258766
dc.type.versioninfo:eu-repo/semantics/publishedVersion
dc.audienceProfessionals
dc.contributor.organismesInstitut 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.pmid34653234
dc.identifier.wos000755689200047
dc.relation.projectidinfo:eu-repo/grantAgreement/ES/PE2013-2016/SAF2016-80255-R
dc.rights.accessrightsinfo:eu-repo/semantics/openAccess


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