Duplications of SLC1A3: Associated with ADHD and autism

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• 作者：Claudia J.M. van Amen-Hellebrekers ; Sandra Jansen ; Rolph Pfundt ; Janneke H. Schuurs-Hoeijmakers ; David A. Koolen ; Carlo L. Marcelis ; Nicole de Leeuw ; Bert B.A. de Vries ; ^{bert.devries@radboudumc.nl" class="auth_mail" title="E-mail the corresponding author}
• 关键词：Duplication 5p13.2 ; Autism ; ADHD ; SLC1A3
• 刊名：European Journal of Medical Genetics
• 出版年：2016
• 出版时间：August 2016
• 年：2016
• 卷：59
• 期：8
• 页码：373-376
• 全文大小：349 K

文摘

We report four patients with a similar gain in 5p13.2 encompassing a single gene: SLC1A3. Behavioural problems resembling ADHD and/or autism-like features are observed which is in line with the glial glutamate transporter role of SLC1A3.

We consider an association between SLC1A3 and the behavioural problems which can also be considered a contributing factor to behavioural problems in larger duplications overlapping the 5p13 microduplication syndrome region.