SATB2-associated Syndrome (SAS)
What is SATB2-associated syndrome (SAS)?
SATB2-associated syndrome (SAS) is a rare condition that affects several body systems. It is characterized by intellectual disability, severe speech problems, dental abnormalities, other abnormalities of the head and face (craniofacial anomalies), and behavioral problems.What causes SATB2-associated syndrome (SAS)?
SATB2-associated syndrome (SAS) is caused by changes in the SATB2 gene. This gene is on chromosome 2 at position q33.1 and makes a protein called SATB2. The SATB2 protein works as a transcription factor for some other genes. The SATB2 protein has important roles in how organs and systems in the human body develop.What are the symptoms of SATB2-associated syndrome (SAS)?
The most common craniofacial anomalies in people with SATB2-associated syndrome (SAS) are a high arch or an opening in the roof of the mouth (high-arched or cleft palate), a small lower jaw (micrognathia), and dental abnormalities, which can include abnormally sized or shaped teeth, extra or missing teeth. The acronym S.A.T.B.2. helps remember these main symptoms: (S): Speech anomalies (A): Abnormalities of the palate (T): Teeth anomalies (B): Behavioral issues (with or without Bone and Brain anomalities) and age of onset Before… (2): …2 years of age Other features include:- Mild to severe intellectual disability, with delayed or absent speech development
- Delayed development of motor skills, such as rolling over, sitting, and walking
- Behavioral problems, including hyperactivity and aggression; some exhibit autistic behaviors, such as repetitive movements
- Other unusual facial features, such as a prominent forehead, low-set ears, or a large area between the nose and mouth (a long philtrum)
How is SATB2-associated syndrome diagnosed (SAS)?
So far, no specific criteria have been outlined to make the diagnosis of SATB2-associated syndrome (SAS). However, the diagnosis of SAS should be considered in anybody that has developmental delay with severely compromised or absent speech and that also has palatal and dental abnormalities. However, the syndrome shares some symptoms with other rare conditions, such as Rett syndrome, so molecular genetic testing should be done to confirm a diagnosis. This testing that could show changes in the SATB2 gene include:- Chromosomal microarray (CGH)
- Sequencing of SATB2
- Next Generation Sequencing testing
- Clinical Exome/Whole Exome Sequencing
