Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome

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• dc.contributor.author Aguilera, Cinthia
• dc.contributor.author Gabau, Elisabeth
• dc.contributor.author Laurie, Steven, 1973-
• dc.contributor.author Baena, Neus
• dc.contributor.author Derdak, Sophia
• dc.contributor.author Capdevila, Núria
• dc.contributor.author Ramirez, Ariadna
• dc.contributor.author Delgadillo, Veronica
• dc.contributor.author García-Catalan, Maria Jesus
• dc.contributor.author Brun i Gasca, Carme
• dc.contributor.author Guitart, Miriam
• dc.contributor.author Ruiz, Anna
• dc.date.accessioned 2019-03-08T09:57:11Z
• dc.date.available 2019-03-08T09:57:11Z
• dc.date.issued 2019
• dc.description.abstract Background: Patients affected by Angelman syndrome (AS) present severe intellectual disability, lack of speech, ataxia, seizures, abnormal electroencephalography (EEG), and a characteristic behavioral phenotype. Around 10% of patients with a clinical diagnosis of AS (AS‐like) do not have an identifiable molecular defect. Some of these patients harbor alternative genetic defects that present overlapping features with AS. Methods: Trio whole‐exome sequence was performed on patient and parent's DNA extracted from peripheral blood. Exome data were filtered according to a de novo autosomal dominant inheritance. cDNA analysis was carried out to assess the effect of the splice site variant. Results: We identified a novel heterozygous SMARCE1 splicing variant that leads to an exon skipping in a patient with an Angelman‐like phenotype. Missense variants in the SMARCE1 gene are known to cause Coffin–Siris syndrome (CSS), which is a rare congenital syndrome. Clinical reevaluation of the patient confirmed the presence of characteristic clinical features of CSS, many of them overlapping with AS. Conclusions: Taking into account the novel finding reported in this study, we consider that CSS should be added to the expanding list of differential diagnoses for AS.
• dc.format.mimetype application/pdf
• dc.identifier.citation Aguilera C, Gabau E, Laurie S, Baena N, Derdak S, Capdevila N, Ramirez A, Delgadillo V, García-Catalan MJ, Brun C, Guitart M, Ruiz A. Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome. Mol Genet Genomic Med. 2019; 7(1):e00511. DOI 10.1002/mgg3.511
• dc.identifier.doi http://dx.doi.org/10.1002/mgg3.511
• dc.identifier.issn 2324-9269
• dc.identifier.uri http://hdl.handle.net/10230/36778
• dc.language.iso eng
• dc.publisher Wiley
• dc.relation.ispartof Mol Genet Genomic Med. 2019; 7(1):e00511
• dc.rights © 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/4.0/), which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
• dc.rights.accessRights info:eu-repo/semantics/openAccess
• dc.rights.uri http://creativecommons.org/licenses/by/4.0/
• dc.subject.keyword Angelman syndrome (AS)
• dc.subject.keyword Coffin–Siris syndrome (CSS)
• dc.subject.keyword Exome sequencing
• dc.subject.keyword SMARCE1
• dc.title Identification of a de novo splicing variant in the Coffin-Siris gene, SMARCE1, in a patient with Angelman-like syndrome
• dc.type info:eu-repo/semantics/article
• dc.type.version info:eu-repo/semantics/publishedVersion