DOCK6

Adams-Oliver syndrome

Mutations in the DOCK6 gene cause Adams-Oliver syndrome, a condition characterized by areas of missing skin (aplasia cutis congenita), usually on the scalp, and malformations of the hands and feet. Neurological abnormalities, such as brain or eye malformations and intellectual disability, are more common in DOCK6-related Adams-Oliver syndrome than in cases associated with other genes. Most DOCK6 gene mutations involved in this condition lead to production of an abnormally short DOCK6 protein that is likely unable to function. Other mutations change single protein building blocks (amino acids) in the DOCK6 protein, which impairs the protein's normal function. The inability of DOCK6 to turn on Cdc42 or Rac1 leads to a reduction in their signaling, which impairs proper development of certain tissues, including the skin on the top of the head and the bones in the hands and feet.