Large deletions encompassing the TCOF1 and CAMK2A genes are responsible for Treacher Collins syndrome with intellectual disability.

Abstract excerpt

Mandibulofacial dysostosis is part of a clinically and genetically heterogeneous group of disorders of craniofacial development, which lead to malar and mandibular hypoplasia. Treacher Collins syndrome is the major cause of mandibulofacial dysostosis and is due to mutations in the TCOF1 gene. Usually patients with Treacher Collins syndrome do not present with intellectual disability. Recently, the EFTUD2 gene was...

Topics

• Adolescent
• Calcium-Calmodulin-Dependent Protein Kinase Type 2
• Child
• Female
• Gene Deletion
• High-Throughput Nucleotide Sequencing
• Humans
• Intellectual Disability
• Male