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ASXL3

Characteristics and clinical features:

People with a disruption in the ASXL3 gene typically have severe intellectual disability, impaired speech and features of autism. They may also have low muscle tone, significant feeding difficulties and distinctive facial features, such as a prominent forehead and arched eyebrows. The condition is also known as Bainbridge-Ropers syndrome.

 

Biology:

ASXL3 helps to regulate production of other genes. Most ASXL3 mutations are de novo, meaning that the individual’s parents do not carry the mutation.

 

History:

ASXL3 was first linked to autism in 2013. As of summer 2017, researchers had described nearly 30 cases of people with mutations in ASXL3.

 

Additional resources:

 

Scientific papers on ASXL3: