Mutations in ANKRD11 cause KBG syndrome, characterized by intellectual disability, skeletal malformations, and macrodontia

Original research article by A. Sirmaci et al. (2011).

Read the abstract here.  

KBG syndrome is characterized by certain differences with the teeth and bones. Most people with the syndrome have wide, large front teeth, as well as subtle differences in bone structure that may result in subtle differences in facial features, differences in hand bones, and shorter than average height. People with the syndrome are often diagnosed with intellectual disability and/or developmental delay. Some people have a history of seizures.

For this article, 10 families were identified because of a diagnosis of both KBG Syndrome and autism spectrum disorder along with mild to moderate intellectual disability. By testing family members with and without the changes in ANKRD11, the researchers could begin to make associations between this genetic change and features shared by people with the change.

Little is known about the brain-related function of ANKRD11, but previous research suggests that a high level of ANKRD11-related activity occurs in the brain. The authors conclude not only that ANKRD11 plays an important role in the development and function of the head, face, teeth, bones, and brain, but also that changes in ANKRD11 are a cause of KBG syndrome.