DEAF1 autosomal recessive

Management

Management

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

  • Intellectual disability with severe speech problems: close developmental surveillance by a paediatrician with appropriate referral for daily intervention and on-going support at and after school.
  • Neurological problems: surveillance by a neurologist in case of seizures and /or abnormal brain MRI.
  • Behavioural problems: surveillance by a development pediatrician or child psychiatrist.

Genetic counseling

Mutations in DEAF1 are inherited in an autosomal recessive manner.

All affected individuals with autosomal recessive intellectual disability syndromes related to the DEAF1 gene inherited the pathogenic variants from each parent. Thus, the recurrence risk for future pregnancies is 25%. Prenatal testing and preimplantation genetic diagnosis are feasible.

No individual with homozygous DEAF1 variants has been known to reproduce.