Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia
| Autor: | Samuel P. Strom, Anthony Wynshaw-Boris, Jonathan Picker, Richard E. Lutz, Abidemi Adegbola, Elina Nikkola |
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| Rok vydání: | 2020 |
| Předmět: |
Psychosis
Nanopore sequencing refractive error of the eye attention deficit hyperactivity disorder (ADHD) Chromosomal translocation QH426-470 Adherens junction DISC1 familial ADHD Neurodevelopmental disorder mental disorders Genetics Medicine Attention deficit hyperactivity disorder Genetics (clinical) whole genome sequencing biology business.industry translocation mapping medicine.disease biology.protein Molecular Medicine Autism business Neuroscience Delta catenin |
| Zdroj: | HGG Advances, Vol 1, Iss 1, Pp 100007-(2020) |
| ISSN: | 2666-2477 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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