CTNND2 deletion and intellectual disability

• We performed molecular karyotyping in two patients with intellectual disability.
• We found an intragenic deletion in CTNND2.
• Patients' phenotype complies with other cases described so far.
• CTNND2 deletion is involved in brain function and intellectual disability.

Neurodevelopmental disorders are a group of diseases characterized by either structural or functional alterations. The clinical spectrum can vary from isolated intellectual disability to more complex syndromes. Molecular karyotyping can explain 14%–18% of cases due to the presence of large pathogenic CNVs. Moreover, small CNVs involving single genes might result in a monogenic disease. In this article we report two cases of intragenic CTNND2 deletion, detected by molecular karyotyping, in patients with isolated intellectual disability.