Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia
Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia
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DOI：
10.1016/j.xhgg.2020.100007
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发表时间：
2020-10-22
期刊：
影响因子：
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通讯作者：
Wynshaw-Boris, Anthony
中科院分区：
文献类型：
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作者：
Adegbola, Abidemi;Lutz, Richard;Wynshaw-Boris, Anthony
Attention deficit hyperactivity disorder (ADHD) is a common and highly heritable neurodevelopmental disorder with poorly understood pathophysiology and genetic mechanisms. A balanced chromosomal translocation interrupts CTNND2 in several members of a family with profound attentional deficit and myopia, and disruption of the gene was found in a separate unrelated individual with ADHD and myopia. CTNND2 encodes a brain-specific member of the adherens junction complex essential for postsynaptic and dendritic development, a site of potential pathophysiology in attentional disorders. Therefore, we propose that the severe and highly penetrant nature of the ADHD phenotype in affected individuals identifies CTNND2 as a potential gateway to ADHD pathophysiology similar to the DISC1 translocation in psychosis or AUTS2 in autism.
