Systematic review links CNTN6 gene to neurodevelopmental and mental disorders

This systematic review synthesizes preclinical and genetic association studies on the CNTN6 gene across rodents and humans. The review covers histological, cellular, and molecular studies in rodents demonstrating CNTN6 protein involvement in neurite guidance, neural network development, and oligodendrocytogenesis. Animal models with Cntn6 gene deletion showed impaired spatial orientation and memory patterns.

In humans, copy number variation analysis and genome-wide association studies identified allele-phenotype relationships between CNTN6 and a range of neurodevelopmental and mental diseases, including autism spectrum disorder (ASD), intellectual disability (ID), Tourette syndrome (TS), schizophrenia (SCZ), anorexia, and others. The review does not report pooled effect sizes or specific statistical measures.

The authors note that causal evidence is limited to animal models with gene deletion; human data are associative (allele-phenotype relationships) and do not establish causality. The review does not discuss limitations or provide practice relevance. Clinicians should interpret these findings as preliminary and recognize that CNTN6 may be one of many genes contributing to neurodevelopmental vulnerability, but no clinical recommendations can be drawn from this review alone.