High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders

Marina Viñas-Jornet, Susanna Esteba-Castillo, Neus Baena, Núria Ribas-Vidal, Anna Ruiz, David Torrents-Rodas, Elisabeth Gabau, Elisabet Vilella, Lourdes Martorell, Lluís Armengol, Ramon Novell, Míriam Guitart

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    4 Citations (Scopus)

    Abstract

    © 2018, The Author(s). A genetic analysis of unexplained mild-moderate intellectual disability and co-morbid psychiatric or behavioural disorders is not systematically conducted in adults. A cohort of 100 adult patients affected by both phenotypes were analysed in order to identify the presence of copy number variants (CNVs) responsible for their condition identifying a yield of 12.8% of pathogenic CNVs (19% when including clinically recognizable microdeletion syndromes). Moreover, there is a detailed clinical description of an additional 11% of the patients harbouring possible pathogenic CNVs—including a 7q31 deletion (IMMP2L) in two unrelated patients and duplications in 3q29, 9p24.2p24.1 and 15q14q15.1—providing new evidence of its contribution to the phenotype. This study adds further proof of including chromosomal microarray analysis (CMA) as a mandatory test to improve the diagnosis in the adult patients in psychiatric services.
    Original languageEnglish
    Pages (from-to)323-336
    JournalBehavior Genetics
    Volume48
    Issue number4
    DOIs
    Publication statusPublished - 1 Jul 2018

    Keywords

    • Adult patients
    • Behavioural disorders
    • Copy number variants
    • Intellectual disability
    • Psychiatric disorders

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  • Cite this

    Viñas-Jornet, M., Esteba-Castillo, S., Baena, N., Ribas-Vidal, N., Ruiz, A., Torrents-Rodas, D., Gabau, E., Vilella, E., Martorell, L., Armengol, L., Novell, R., & Guitart, M. (2018). High Incidence of Copy Number Variants in Adults with Intellectual Disability and Co-morbid Psychiatric Disorders. Behavior Genetics, 48(4), 323-336. https://doi.org/10.1007/s10519-018-9902-6