CTNND2
catenin delta 2
Normal Function
Health Conditions Related to Genetic Changes
Autism spectrum disorder
MedlinePlus Genetics provides information about Autism spectrum disorder
More About This Health ConditionRelated Conditions
Autism spectrum disorderCri-du-chat syndrome
Health Conditions Related to Genetic Changes
MedlinePlus Genetics provides information about Autism spectrum disorder
The CTNND2 gene is located in a region of chromosome 5 that is often deleted in people with cri-du-chat syndrome. As a result of this deletion, many people with this condition are missing one copy of the CTNND2 gene in each cell. The loss of this gene may cause severe intellectual disability in some affected individuals. Researchers suspect that intellectual disability could result from a disruption of neuronal migration during the early development of the nervous system.
People with cri-du-chat syndrome who do not have a deletion of the CTNND2 gene tend to have milder intellectual disability or normal intelligence.