De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females

MED12 is a subunit of the Mediator multiprotein complex with a central role in RNA polymerase II transcription and regulation of cell growth, development, and differentiation. This might underlie the variable phenotypes in males carrying missense variants in MED12, including X-linked recessive Ohdo,...

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Veröffentlicht in:	Genetics in medicine 2021-04, Vol.23 (4), p.645-652
Hauptverfasser:	Polla, D.L., Bhoj, E.J., Verheij, J.B.G.M., Wassink-Ruiter, J.S. Klein, Reis, A., Deshpande, C., Gregor, A., Hill-Karfe, K., Silfhout, A.T. Vulto-van, Pfundt, R., Bongers, E.M.H.F., Hakonarson, H., Berland, S., Gradek, G., Banka, S., Chandler, K., Gompertz, L., Huffels, S.C., Stumpel, C.T.R.M., Wennekes, R., Stegmann, A.P.A., Reardon, W., Leenders, E.K.S.M., de Vries, B.B.A., Li, D., Zackai, E., Ragge, N., Lynch, S.A., Cuddapah, S., van Bokhoven, H., Zweier, C., de Brouwer, A.P.M.
Format:	Artikel
Sprache:	eng
Schlagworte:	Biomedical and Life Sciences Biomedicine Female Genes, X-Linked Human Genetics Humans Intellectual Disability - genetics Laboratory Medicine Mediator Complex - genetics Mental Retardation, X-Linked - genetics Mutation, Missense Neurodevelopmental disorders Neurodevelopmental Disorders - genetics Phenotype RNA polymerase Syndrome
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