Targeted correction of megabase-scale <i>CNTN6</i> duplication in induced pluripotent stem cells and impacts on gene expression.

ABSTRACT: Copy number variations of the human CNTN6 gene, resulting from megabase-scale microdeletions or microduplications in the 3p26.3 region, are frequently implicated in neurodevelopmental disorders such as intellectual disability and developmental delay. However, duplication of the full-length human CNTN6 gene presents with variable penetrance, resulting in phenotypes that range from neurodevelopmental disorders to no visible pathologies, even within the same family. Previously, we obtained a set of induced pluripotent stem cell lines derived from a patient with a CNTN6 gene duplication and from two healthy donors. Our findings demonstrated that CNTN6 expression in neurons carrying the duplication was significantly reduced. Additionally, the expression from the C

SUBMITTER: Gridina M 

PROVIDER: S-EPMC11756360 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature