Details

Autor(en) / Beteiligte

• Adegbola, Abidemi
• Lutz, Richard
• Nikkola, Elina
• Strom, Samuel P.
• Picker, Jonathan
• Wynshaw-Boris, Anthony

Titel

Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia

Ist Teil von

• HGG advances, 2020-10, Vol.1 (1), p.100007, Article 100007

Ort / Verlag

United States: Elsevier Inc

Erscheinungsjahr

2020

Quelle

Alma/SFX Local Collection

Beschreibungen/Notizen

• 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.