Daily Archives: February 26, 2019

Study Points to Additional Genes

26 February 2019

Peters. S.U., Fu. C., Suter,B., Marsh, E., Benke, T.A., Skinner, S.A., Lieberman, D.N., Stanbridge,  S., Jones, M., Beisang, A., Feyma, T. Heydeman, P. Ryther, R., Kaufmann, W.F., Glaze, D.G., Neul, J.L., & Percy, A.K. (2019). Characterizing the Phenotypic Effect of Xq28 Duplication Size in MECP2 Duplication Syndrome. Clinical Genetics, doi.org/10.1111/cge.13521

News iconIt is great to see research on MECP2 duplication syndrome emerging from the NIH Rare Diseases Clinical Research Network Rett syndrome, MECP2 Duplication disorder, and Rett-related disorders Consortium, This research, published electronically on 20 February 2019, provides some important new insights into the role of additional  genes in MECP2 duplication syndrome.

This is great news, both because it is good to see this research project starting to produce published results and because this study opens a new area for further study. Dr. Peters and her colleagues suggest that several other genes may contribute to the overall severity of MECP2 duplication. The authors use some existing measures of severity to determine the relationship between duplicated genes and overall severity. They go on to advocate for the creation of a comprehensive instrument for assessing severity of MECP2 duplication syndrome. Continue reading