A 15q13.3 microdeletion segregating with autism

Janine Lamb, Alistair T. Pagnamenta, Kirsty Wing, Elham Sadighi Akha, Samantha J L Knight, Sven Bölte, Gabriele Schmötzer, Eftichia Duketis, Fritz Poustka, Sabine M. Klauck, Annemarie Poustka, Jiannis Ragoussis, Anthony J. Bailey, Anthony P. Monaco

    Research output: Contribution to journalArticlepeer-review


    Autism and mental retardation (MR) show high rates of comorbidity and potentially share genetic risk factors. In this study, a rare ∼2 Mb microdeletion involving chromosome band 15q13.3 was detected in a multiplex autism family. This genomic loss lies between distal break points of the Prader-Willi/Angelman syndrome locus and was first described in association with MR and epilepsy. Together with recent studies that have also implicated this genomic imbalance in schizophrenia, our data indicate that this CNV shows considerable phenotypic variability. Further studies should aim to characterise the precise phenotypic range of this CNV and may lead to the discovery of genetic or environmental modifiers.
    Original languageEnglish
    Pages (from-to)687-692
    Number of pages5
    JournalEuropean Journal of Human Genetics
    Issue number5
    Publication statusPublished - 2009


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