MAPK8IP3– related neurodevelopmental disorder, also known as neurodevelopmental disorder with or without variable brain anomalies (NEDBA), has been a recognized neurodevelopmental disorder for less than two years (OMIM, 2019). We will continue to update this page as we families learn more.
MAPK8IP3, or Mitogen-Activated Protein Kinase 8 Interacting Protein 3, is a gene on Chromosome 16 (16p13) that encodes a protein that works like a motor in the nerve cells of the brain (Chung, 2020). This motor moves items along the axon of the nerve cells of the brain (Iwasawa, 2019). With a MAPK8IP3 variant diagnosis, one copy of the MAPK8IP3 gene is normal and the second copy has a change (variant) . This change can affect how the motor works by producing a shortened protein or a protein that does not work correctly (Chung, 2020).
Based on published studies, we know there is range of symptom severity, meaning some individuals are more affected in certain areas than others (Chung, 2020). Read the National Organization for Rare Disorders’ description of MAPK8IP3-related neurodevelopmental disorder here. Access the published studies of the MAPK8IP3 variant in the human population here. Researchers presented on MAPK8IP3 during the 2019 AsiaPacific Forum on Population Genomics Presentation.
A diagnosis of a MAPK8IP3 gene variant is based on genetic testing. Because the MAPK8IP3 variant was recognized so recently, the exact number of cases within the population is not known at this time (Chung, 2020). It is estimated that the incidence of having a MAPK8IP3 variant is approximately 1 in 100,000 individuals throughout the world (Chung, 2020).
Natural History Study
Current research is underway to do a natural history study to more closely identify commonalities and develop best practice guidelines. This study collects information about how the MAPK8IP3-related neurodevelopmental disorder presents and progresses over time in humans. If you or a family member are a patient with a MAPK8IP3 variant, you can learn more here.
Chung, W. K. (2020). MAPK8ip3 research presentation to families [PowerPoint slides]
Iwasawa, S., Yanagi, K., Kikuchi, A., Kobayashi, Y., Haginoya, K., Matsumoto, H., … Kure, S. (2019). Recurrent de novo MAPK8IP3 variants cause neurological phenotypes. Annals of Neurology, 85(6), 927-933. https://doi.org/10.1002/ana.25481
OMIM. (2019, May 22). #618443- Nuerodevelopmental disorder with or without brain anomalies. Retrieved from https://www.omim.org/entry/618443.