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

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

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


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.

Original languageEnglish (US)
Article number100007
JournalHuman Genetics and Genomics Advances
Issue number1
StatePublished - Oct 22 2020


  • Nanopore sequencing
  • attention deficit hyperactivity disorder (ADHD)
  • familial ADHD
  • gene identification
  • myopia
  • neurodevelopment
  • protein-truncating variants (PTVs)
  • refractive error of the eye
  • translocation mapping
  • whole genome sequencing

ASJC Scopus subject areas

  • Molecular Medicine
  • Genetics(clinical)


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