The ZNF668gene gives the body instructions to make a protein that helps repair damage to our DNA. This repair process is important for healthy growth and for brain development.
In children with ZMAND, both copies of the ZNF668gene have changes (mutations) that stop the gene from working properly. The known mutations are “stop” mutations, which cut the protein short so it cannot do its job.
Because the protein doesn’t function as it should, the cells have more trouble repairing DNA damage. This can affect how the brain forms and develops, and may contribute to the growth and developmental problems seen in this condition.
ZNF668