Gene structure: The KMT2E gene is present on chromosome 7. Every individual has two copies of the KMT2E gene.
Gene function: The KMT2E gene is important for how our DNA is packaged in cells. Changes in the DNA structure can affect several biological processes, including how cells grow and divide. The KMT2E gene is expressed in most tissues of the body, including in the developing child’s brain.
Disease mechanism: When one of the two copies of the KMT2E gene has a disease-causal alteration, this is called a pathogenic variant. To date, over 60 pathogenic variants have been published in literature and many more have been identified through clinical testing. The majority of pathogenic variants result in no KMT2E protein produced. In a few cases, individuals have been reported to have some protein with an abnormal structure. These individuals appear to be more severely affected with a smaller head and seizures, compared to those with variants that lead to no protein being produced.