1. Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia
- Author
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Abidemi Adegbola, Richard Lutz, Elina Nikkola, Samuel P. Strom, Jonathan Picker, and Anthony Wynshaw-Boris
- Subjects
attention deficit hyperactivity disorder (ADHD) ,translocation mapping ,whole genome sequencing ,Nanopore sequencing ,familial ADHD ,refractive error of the eye ,Genetics ,QH426-470 - Abstract
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.
- Published
- 2020
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