SETBP1 disorder

Alternate names

SETBP1-related disorder; SETBP1-related intellectual disability; SETBP1 related developmental delay; Autosomal dominant intellectual disability 29

Definition

SETBP1 disorder is a neurodevelopmental disorder characterized by intellectual disability, mild to moderate developmental delay, autism or autistic traits, and attention deficit. Speech may be absent or delayed.

Cause

• SETBP1 disorder is caused by a loss-of-function mutation in one of the two copies of the SETBP1 gene.
• The SETBP1 gene is located on the long (q) arm of chromosome 18.
• This gene provides instructions for making a protein that attaches (binds) to certain regions of DNA to increase gene activity (expression).
• The SETBP1 protein is found throughout the body, but protein levels are highest during brain development before birth.
• During this time, nerve cells grow and divide (proliferate) and move (migrate) to their proper location in the brain.
• The SETBP1 protein is thought to control the activity of genes involved in these developmental processes.

Gene muatations

• SETBP1 gene mutations that cause SETBP1 disorder prevent the production of any functional SETBP1 protein.
• It is unclear how the loss of SETBP1 protein leads to the specific features of SETBP1 disorder.
• A shortage of this protein probably impairs the expression of certain genes in the brain, disrupting development.
• Abnormalities in certain brain regions likely underlie the speech, intellectual, and behavioral problems that can occur in SETBP1 disorder.

Inheritance

Autosomal dominant pattern, a 50/50 chance.

This condition is inherited in an autosomal dominant manner.

Signs and symptoms

• In people with SETBP1 disorder, problems with expressive language skills (vocabulary and the production of speech) are generally more severely affected than receptive language skills (the ability to understand speech).
• Speech development may be limited to a few words or no speech.
• Affected individuals often communicate using gestures or by mimicking the expressions of others.
• Individuals with SETBP1 disorder have intellectual disability that can range from mild to moderate.
• They may also have behavioral problems, such as attention-deficit hyperactivity disorder (ADHD) or autistic behaviors that affect communication and social interaction.
• Affected individuals may have weak muscle tone (hypotonia); delayed development of motor skills, such as sitting, standing, and walking; or recurrent seizures (epilepsy).
• Distinctive facial features in people with SETBP1 disorder can include a long face, a high forehead, eyebrows that grow together in the middle (synophrys), short eye openings (short palpebral fissures), skin folds covering the inner corner of the eyes (epicanthal folds), droopy eyelids (ptosis), puffiness of the skin around the eyes (periorbital fullness), small nostrils, a high nasal bridge, a broad tip of the nose, a thin upper lip, a high arch in the roof of the mouth (high-arched palate), and a small chin.

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

• Delayed speech and language development(Deficiency of speech development)
• Motor delay

30%-79% of people have these symptoms

• Abnormal social behavior(Abnormal social behaviour)
• EEG abnormality
• Hyperactivity(More active than typical)
• Intellectual disability, (mild Mental retardation, borderline-mild)
• Mutism(Inability to speak)

5%-29% of people have these symptoms

• Cafe-au-lait spot
• Incomprehensible speech
• Intellectual disability, moderate(IQ between 34 and 49)
• Intellectual disability, profound(IQ less than 20)
• Intellectual disability, severe(Early and severe mental retardation)
• Long face(Elongation of face)
• Low-set ears(Low set ears)
• Seizure

NIH genetic and rare disease info

• NIH info on SETBP1 disorder

SETBP1 disorder is a rare disease.

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