Disruption of CTNND2, encoding delta-catenin, causes a penetrant attention deficit disorder and myopia.
HGG Adv
; 1(1)2020 Oct 22.
Article
en En
| MEDLINE
| ID: mdl-33718894
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.
Texto completo:
1
Banco de datos:
MEDLINE
Tipo de estudio:
Etiology_studies
Idioma:
En
Revista:
HGG Adv
Año:
2020
Tipo del documento:
Article
País de afiliación:
Estados Unidos