Molecular characteristics

Most patients identified have a loss-of-function mutation in ZNF711, meaning no functional protein generated. A single family with a altered protein has been described. The ZNF711 protein is a transcription factor, meaning that it binds to our DNA in the cell and regulates the expression of a number of other genes in our genome. Some of these genes have been identified and are know to cause an intellectual disability syndrome by themselves when mutated.