DEAF1 autosomal dominant



Treatment should be directed to the symptoms of the patient. The following is recommended:

  • close developmental surveillance by a paediatrician with appropriate referral for daily intervention and on-going support at and after school
  • educational programs directed to specific disabilities identified
  • speech therapy and other interventions to augment communication
  • routine treatment of behavioral problems and seizures.

Genetic counseling

Mutations in DEAF1 are inherited in an autosomal dominant manner, but to date all cases result from a de novo mutation. Thus, the affected individuals represent sporadic cases, i.e. a single occurrence in a family.

The recurrence risk for future pregnancies is considered low (probably <1%). Prenatal testing is technically feasible, although the likelihood of recurrence in families who have had an affected child is considered low based upon the current knowledge.

No individuals with DEAF1-related intellectual disability have been known to reproduce.