A de novo partial deletion of CDH11, which was associated with one of the breakpoints of a de novo complex chromosomal rearrangement, was identified in a sporadic patient with ASD, mild intellectual disability, and ADHD; in the same report, a case-control study for 14 SNP variants in the CDH11 gene in 519 ASD cases and 1,192 controls showed significant overpresentation of rs7187376C/C genotypes in the patient group (P=0.0049) (Crepel et al., 2014). Cao et al., 2025 found that CHD11 is enriched at synapses in glutamatergic neurons of the anterior cingulate cortex and that developmental ablation of Cdh11 in these neurons led to increased self-grooming, reduced sociability, and decreased neuronal activity.
Molecular Function
Cadherins are calcium-dependent cell adhesion proteins. They preferentially interact with themselves in a homophilic manner in connecting cells; cadherins may thus contribute to the sorting of heterogeneous cell types. Expressed mainly in brain but also found in other tissues. Expressed in neuroblasts.
