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

Cinthia Aguilera, Elisabeth Gabau, Steve Laurie, Neus Baena, Sophia Derdak, Núria Capdevila, Ariadna Ramirez, Veronica Delgadillo, Maria Jesus García-Catalan, Carme Brun, Miriam Guitart, Anna Ruiz

Research output: Contribution to journalArticleResearch

3 Citations (Scopus)


© 2018 The Authors. Molecular Genetics & Genomic Medicine published by Wiley Periodicals, Inc. 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.
Original languageEnglish
Article numbere00511
Pages (from-to)1-6
JournalMolecular genetics & genomic medicine
Publication statusPublished - 1 Jan 2019


  • Angelman syndrome (AS)
  • Coffin–Siris syndrome (CSS)
  • exome sequencing


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