DEAF1-associated disorders

Alternate names

DEAF1 mutations; DEAF1-associated neurodevelopmental disorder; DEAF1 related disorders; DEAF1 autosomal recessive mutations (subtype); DEAF1 autosomal dominant mutations (subtype)

Definition

DEAF1-related disorders are neurologic diseases that mainly present with intellectual disability, speech impairment and motor developmental delay.

Cause

DEAF1-related disorders are caused by changes (known as pathogenic variants, or mutations) in the DEAF1 gene which activates or represses several other genes that are important for brain cell (neuron) development.

Types

There are two types of DEAF-1 disorders that have been described: an autosomal recessive DEAF-1 disorder (known as intellectual disability-epilepsy-extrapyramidal syndrome, or dyskinesia, seizures, and intellectual developmental disorder) and an autosomal dominant DEAF-1 disorder known as autosomal dominant intellectual disability 24.

Signs and symptoms

• It is mainly present with intellectual disability, speech impairment and motor developmental delay.
• Additional features that have being described include seizures, brain malformations, behavioral problems, autism, stomach and/or intestinal problems, and skeletal problems (flat foot or hip dislocation).
• Some people with DEAF1-related disorders may also have some features that resemble another disease known as Smith-Magenis syndrome, such as intellectual disability, dysmorphic features, and sleep disturbances.

Clinical presentation

For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed.

80%-99% of people have these symptoms

• Brain imaging abnormality
• Constipation
• Intellectual disability(Mental deficiency)
• Poor eye contact
• Severe global developmental delay
• Sleep disturbance(Difficulty sleeping)

30%-79% of people have these symptoms

• Abnormality of pain sensation
• Aggressive behavior(Aggression)
• Autism
• Broad-based gait(Wide based walk)
• Developmental regression(Loss of developmental milestones)
• Feeding difficulties(Feeding problems)
• Gait ataxia(Inability to coordinate movements when walking)
• Infantile muscular hypotonia(Decreased muscle tone in infant)
• Microcephaly(Abnormally small skull)
• Mood swings
• Recurrent infections(Frequent infections)
• Tip-toe gait(Walking on tiptoes)

5%-29% of people have these symptoms

• Absent speech(Absent speech development)
• Agitation
• Clumsiness
• Drooling(Dribbling)
• Gait imbalance(Abnormality of balance)
• Involuntary movements(Involuntary muscle contractions)
• Macrocephaly(Increased size of skull)
• Status epilepticus(Repeated seizures without recovery between them)
• Unsteady gait(Unsteady walk)
• Waddling gait('Waddling' gait)

Treatment

Treatment is directed at the specific symptoms present.

NIH genetic and rare disease info

• NIH info on DEAF1-associated disorders

DEAF1-associated disorders is a rare disease.

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