The DEAF1 gene encodes the Drosophila deformed epidermal autoregulatory factor-1 homolog, a transcription factor. DEAF1 is highly expressed in the CNS, especially during early embryonic development. Mutations in DEAF1 cause intellectual disability and behavioral problems, most likely as a result of impaired transcriptional regulation by DEAF1.
Genetic testing
Mutations in DEAF1 can be identified using molecular genetic testing, either directly by sequencing of the DEAF1 gene or by exome/genome sequencing.
Molecular characteristics
The majority of pathogenic variants reported in the scientific literature are missense mutations. Missense variants affected the SAND domain of the DEAF1 gene. One pathogenic variant was a 3-bp deletion, resulting in a single amino acid deletion, and it was located in the NLS domain.
All heterozygous variants in the DEAF1 gene occurred de novo in patients with autosomal dominant intellectual disability syndrome related to the DEAF1 gene.