Mutation in the DEAF1 gene is also linked to
basal ganglia dysfunction and epilepsy, beside autism and intellectual
disability. This finding was published in a 2015 issue of Journal of Medical Genetics.
There are several genetic defects that can cause
autism-related intellectual disability and epilepsy. The published article
describes a defect in the DEAF1 gene in three children from an Omani family in
whom mutations in known candidate genes were not present. Severe epilepsy was
observed in two of three children, apart from intellectual disability
disorder affecting the limbs was present in all three siblings. This occurred
due to changes in a part of the nervous system called the basal ganglia; the
changes were demonstrated on MRI.
Based on genetic studies, the researchers found
that all affected individuals showed a mutation in the DEAF1 gene
(c.997+4A>C, p.G292Pfs*). The researchers also stated that DEAF-1 linked
disorder can be hereditary and inherited as an autosomal recessive trait. A
condition is said to be inherited in a recessive manner if it manifests
clinically only when the defect is present on both the pair of chromosomes. The
researchers also indicated that DEAF1 mutations can result in epilepsy and
extrapyramidal symptoms like abnormal movements, as shown in these patients.
The DEAF 1 gene is officially named as 'DEAF1
transcription factor'. It encodes a protein which is necessary for embryonic
development. The gene is located on the short arm of chromosome 11. Mutations in the gene have been
associated with mental retardation
study had previously demonstrated that de
mutations in the SAND domain of DEAF1 can cause intellectual
disability with severe speech impairment and behavioral problems. Patients with
DEAF1 mutations can be managed by treating clinical manifestations of the
1. Rajab A. et.al.
Recessive DEAF1 mutation associates with autism, intellectual disability, basal
ganglia dysfunction and epilepsy. J Med Genet. 2015 Sep; 52(9):607-11.
2. Vulto-van Silfhout
AT, et.al. Mutations Affecting the SAND Domain of DEAF1 Cause Intellectual
Disability with Severe Speech Impairment and Behavioral Problems. Am J Hum
Genet. 2014; 94(5): 649-661.
3. DEAF1. Genetics Home Reference. Available