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oai:recercat.cat:10230/523192025-12-12T03:57:56Zcom_2072_6col_2072_452952

New genes involved in Angelman syndrome-like: expanding the genetic spectrum Aguilera, Cinthia Gabau, Elisabeth Ramirez-Mallafré, Ariadna Brun i Gasca, Carme Dominguez-Carral, Jana Delgadillo, Veronica Laurie, Steven, 1973- Derdak, Sophia Padilla, Natàlia Cruz, Xavier de la Capdevila, Núria Spataro, Nino, 1984- Baena, Neus Guitart, Miriam Ruiz, Anna Genètica Angelman, Síndrome d' 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. 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) 2022-01-25T11:46:53Z 2022-01-25T11:46:53Z 2021 info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 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 1932-6203 http://hdl.handle.net/10230/52319 http://dx.doi.org/10.1371/journal.pone.0258766 eng © 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 https://creativecommons.org/licenses/by/4.0/ info:eu-repo/semantics/openAccess application/pdf application/pdf Public Library of Science (PLoS)