ADAR

Variants (also called mutations) in the ADAR gene have been identified in people with Aicardi-Goutières syndrome, a disorder that typically involves severe brain dysfunction (encephalopathy), skin lesions, immune system abnormalities, and other health problems. Some of these variants lead to the production of an ADAR1 protein that is less able to bind to RNA; others impair the protein's RNA editing function. As a result, control of the immune response is impaired and the immune system attacks the body's own tissues and organs, leading to the signs and symptoms of Aicardi-Goutières syndrome.

ADAR gene variants have been identified in people with dyschromatosis symmetrica hereditaria. This disorder is characterized by freckle-like spots (macules) on the face, hands, and feet that are darker or lighter than the surrounding skin. These macules generally appear in infancy or early childhood.

Variants in the ADAR gene that lead to dyschromatosis symmetrica hereditaria cause cells to produce a version of the ADAR1 protein that does not function properly. While the function of this protein in the skin is unknown, researchers suggest that incorrect RNA editing may result in pigment-producing cells (melanocytes) that are more or less active than normal, causing the skin spots that occur in people with this disorder.