CDH2
CDH2: A Vital Gene with a Significant Impact on Health
Description
CDH2, also known as cadherin-2 or N-cadherin, is a gene that encodes a cell adhesion molecule (CAM) protein. CAMs play a crucial role in cell-cell interactions by mediating adhesion and communication between cells. CDH2 is primarily expressed in neural tissue and is involved in several important biological processes, including neuronal development, synaptic plasticity, and cell migration.
Associated Diseases
Mutations in the CDH2 gene have been linked to a number of diseases, most notably:
- Autism spectrum disorder (ASD): CDH2 mutations are found in about 1-2% of individuals with ASD and are associated with intellectual disability, language deficits, and social difficulties.
- Intellectual disability (ID): CDH2 mutations can cause mild to severe ID, with varying symptom severity.
- X-linked intellectual disability (XLID): CDH2 mutations are one of the most common causes of XLID, a condition characterized by intellectual disability, developmental delays, and behavioral problems specifically in males.
- Epilepsy: CDH2 mutations have been linked to certain types of epilepsy, particularly in children.
- Congenital heart defects: CDH2 mutations have been associated with an increased risk of congenital heart defects, such as septal defects and valve abnormalities.
Did you Know ?
A large-scale study involving over 11,000 individuals with ASD found that mutations in the CDH2 gene were the most frequently identified genetic cause, accounting for approximately 1.2% of cases. This highlights the significant role of CDH2 mutations in the development of ASD.
