Comprehensive molecular testing in patients with high functioning autism spectrum disorder

Maria Isabel Alvarez-Mora, Rosa Calvo Escalona, Olga Puig Navarro, Irene Madrigal, Ines Quintela, Jorge Amigo, Dei Martinez-Elurbe, Michaela Linder-Lucht, Gemma Aznar Lain, Angel Carracedo, Montserrat Mila, Laia Rodriguez-Revenga

    Research output: Contribution to journalArticleResearchpeer-review

    15 Citations (Scopus)


    © 2016 Elsevier B.V. Autism spectrum disorders (ASD) include a range of complex neurodevelopmental disorders with extreme genetic heterogeneity. Exome and target sequencing studies have shown to be an effective tool for the discovery of new ASD genes. The aim of this study was to design an ASD candidate gene panel that covers 44 of the top ASD candidate genes. As a pilot study we performed comprehensive molecular diagnostic testing, including the study of the FMR1 and FMR2 repeat regions, copy number variant analysis in a collection of 50 Spanish ASD cases and mutation screening using targeted next generation sequencing-based techniques in 44 out of the total cohort. We evaluated and clinically selected our cohort, with most of the cases having high functioning ASD without facial dysmorphic features. The results of the present study allowed the detection of copy number and single nucleotide variants not yet identified. In addition, our results underscore the difficulty of the molecular diagnosis of ASD and confirm its genetic heterogeneity. The information gained from this and other genetic screenings is necessary to unravel the clinical interpretation of novel variants.
    Original languageEnglish
    Pages (from-to)46-52
    JournalMutation Research - Fundamental and Molecular Mechanisms of Mutagenesis
    Publication statusPublished - 1 Feb 2016


    • Autism spectrum disorders
    • Candidate genes
    • Copy number variants
    • Next generation sequencing
    • Single nucleotide variants


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