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

2 Scopus citations

Abstract

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
Volume1
Issue number1
DOIs
StatePublished - Oct 22 2020

Keywords

  • 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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