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6p22.3 deletion: report of a patient with autism, severe intellectual disability and electroencephalographic anomalies

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Author(s): Di Benedetto Daniela | Di Vita Giuseppa | Romano Corrado | Giudice Mariangela Lo | Vitello Girolamo Aurelio | Zingale Marinella | Grillo Lucia | Castiglia Lucia | Musumeci Sebastiano Antonino | Fichera Marco

Journal: Molecular Cytogenetics
ISSN 1755-8166

Volume: 6;
Issue: 1;
Start page: 4;
Date: 2013;
Original page

Keywords: 6p22.3 deletion | Array-CGH | ASDs | Hypotonia | DTNBP1

ABSTRACT
Abstract Background The interstitial 6p deletions, involving the 6p22-p24 chromosomal region, are rare events characterized by variable phenotypes and no clear genotype-phenotype correlation has been established so far. Results High resolution array-CGH identified 1 Mb de novo interstitial deletion in 6p22.3 chromosomal region in a patient affected by severe Intellectual Disability (ID), Autism Spectrum Disorders (ASDs), and electroencephalographic anomalies. This deletion includes ATXN1, DTNBP1, JARID2 and MYLIP genes, known to play an important role in the brain, and the GMPR gene whose function in the nervous system is unknown. Conclusions We support the suggestion that ATXN1, DTNBP1, JARID2 and MYLIP are candidate genes for the pathophysiology of ASDs and ID, and we propose that deletion of DTNBP1 and/or JARID2 contributes to the hypotonia phenotype.
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