New genes involved in Angelman syndrome-like: expanding the genetic spectrum

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• dc.contributor.author Aguilera, Cinthia
• dc.contributor.author Gabau, Elisabeth
• dc.contributor.author Ramirez-Mallafré, Ariadna
• dc.contributor.author Brun i Gasca, Carme
• dc.contributor.author Dominguez-Carral, Jana
• dc.contributor.author Delgadillo, Veronica
• dc.contributor.author Laurie, Steven, 1973-
• dc.contributor.author Derdak, Sophia
• dc.contributor.author Padilla, Natàlia
• dc.contributor.author Cruz, Xavier de la
• dc.contributor.author Capdevila, Núria
• dc.contributor.author Spataro, Nino, 1984-
• dc.contributor.author Baena, Neus
• dc.contributor.author Guitart, Miriam
• dc.contributor.author Ruiz, Anna
• dc.date.accessioned 2022-01-25T11:46:53Z
• dc.date.available 2022-01-25T11:46:53Z
• dc.date.issued 2021
• 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.description.sponsorship This work is supported by Instituto de Salud Carlos III (MG, PI16/01411), Asociación Española de Síndrome de Angelman (EG), Institut d’investigació i innovació Parc Taulí I3PT (CA, CIR2016/025, CIR2018/021) and Ministerio de Economía y Competitividad (XD, SAF2016-1480255-R)
• dc.format.mimetype application/pdf
• 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. DOI: 10.1371/journal.pone.0258766
• dc.identifier.doi http://dx.doi.org/10.1371/journal.pone.0258766
• dc.identifier.issn 1932-6203
• dc.identifier.uri http://hdl.handle.net/10230/52319
• dc.language.iso eng
• dc.publisher Public Library of Science (PLoS)
• dc.rights © 2021 Cinthia Aguilera et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri https://creativecommons.org/licenses/by/4.0/
• dc.subject.other Genètica
• dc.subject.other Angelman, Síndrome d'
• dc.title New genes involved in Angelman syndrome-like: expanding the genetic spectrum
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion