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.
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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7948131 | PMC |
http://dx.doi.org/10.1016/j.xhgg.2020.100007 | DOI Listing |
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