Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia.
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ABSTRACT:
SUBMITTER: Adegbola A
PROVIDER: S-EPMC7948131 | biostudies-literature | 2020 Oct
REPOSITORIES: biostudies-literature
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Disruption of <i>CTNND2</i>, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia.
Adegbola Abidemi A Lutz Richard R Nikkola Elina E Strom Samuel P SP Picker Jonathan J Wynshaw-Boris Anthony A
HGG advances 20200825 1
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 <i>CTNND2</i> 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. <i>CTNND2</i> encodes a brain-specific member of the adherens junction complex essential for po ...[more]
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