Adegbola Abidemi, Lutz Richard, Nikkola Elina, Strom Samuel P, Picker Jonathan, Wynshaw-Boris Anthony
Department of Psychiatry, University Hospitals of Cleveland and Case Western Reserve University, Cleveland, OH 44106, USA.
Department of Genetics and Genome Sciences and Center for Human Genetics, University Hospitals of Cleveland and Case Western Reserve University, Cleveland, OH 44106, USA.
HGG Adv. 2020 Oct 22;1(1). doi: 10.1016/j.xhgg.2020.100007. Epub 2020 Aug 25.
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 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. 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 as a potential gateway to ADHD pathophysiology similar to the translocation in psychosis or in autism.
注意缺陷多动障碍（ADHD）是一种常见且具有高度遗传性的神经发育障碍，其病理生理学和遗传机制尚不清楚。在一个患有严重注意力缺陷和近视的家族的几名成员中发现了一种平衡染色体易位，并且在一名患有ADHD和近视的无关个体中发现了该基因的破坏。该基因编码一种粘附连接复合体的脑特异性成员，这对突触后和树突发育至关重要，而这是注意力障碍潜在病理生理学的一个位点。因此，我们提出，受影响个体中ADHD表型的严重和高外显率特性将该基因确定为ADHD病理生理学的一个潜在切入点，类似于精神病中的染色体易位或自闭症中的相关基因。
