Prevalence
So far, only nine patients with an heterozygous mutation in DEAF1 have been reported in the medical literature. Nevertheless, more individuals will likely be found as genetic testing is more commonly used for undiagnosed intellectual disability.
Main clinical features
Heterozygous pathogenic variants in the DEAF1 gene cause mental retardation, autosomal dominant 24 (MRD24), which is characterized by:
- intellectual disability with severe speech impairment;
- severe behavioral problems.
Diagnosis
DEAF1 variants can be identified using molecular genetic testing, either by:
- sequencing of the DEAF1 gene;
- exome/genome sequencing.
Inheritance
Mental retardation, autosomal dominant 24 is inherited in an autosomal dominant manner.
To date, all patients represented sporadic cases (i.e. a single occurrence in a family), resulting from a de novo mutation in DEAF1. Thus, the recurrence risk for future pregnancies is considered low (probably <1%) based upon the current knowledge. No individuals with DEAF1-related intellectual disability have been known to reproduce.