SATB2

SATB2-associated syndrome

Mutations in the SATB2 gene have been found to cause SATB2-associated syndrome. Individuals with this condition have intellectual disability and severe speech problems. They may also have an opening in the roof of the mouth, dental abnormalities, or other abnormalities of the head and face (craniofacial anomalies). Some of these mutations are deletions of large pieces of DNA that remove several genes, including SATB2. Other mutations add, remove, or rearrange smaller pieces of DNA within the SATB2 gene. Still other mutations change single DNA building blocks (nucleotides) in the SATB2 gene. It is likely that these genetic changes reduce the amount of functional SATB2 protein. Reduction of SATB2 function is thought to impair normal development of the brain and craniofacial structures, leading to intellectual disability, delayed speech, craniofacial anomalies, and other features of SATB2-associated syndrome.

The signs and symptoms of SATB2-associated syndrome are usually similar, regardless of the type of mutation that causes it. However, some individuals with large deletions that include additional genes have uncommon features of the condition, such as problems with the heart, genitals and urinary tract (genitourinary tract), skin, or hair. These features are thought to be related to loss of other genes near SATB2.