The DEAF1 gene encodes the Drosophila deformed epidermal autoregulatory factor-1 homolog, a transcription. 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
So far, a pathogenic missense variant in the SAND domain of DEAF1 and a splice site DEAF1 variant were reported in homozygosity in the scientific literature.
Parents of children with homozygous DEAF1 mutations were non-affected carriers.