Article
The power of the Mediator complex-Expanding the genetic architecture and phenotypic spectrum of MED12-related disorders.
Clinical genetics - 1 Nov 2018
Charzewska A, Maiwald R, Kahrizi K, Oehl-Jaschkowitz B, Dufke A, Lemke J R, Enders H, Najmabadi H, Tzschach A, Hachmann W, Jensen C, Bienek M, Poznański J, Nawara M, Chilarska T, Obersztyn E, Hoffman-Zacharska D, Gos M, Bal J, Kalscheuer V M
Abstract excerpt
MED12 is a member of the large Mediator complex that controls cell growth, development, and differentiation. Mutations in MED12 disrupt neuronal gene expression and lead to at least three distinct X-linked intellectual disability syndromes (FG, Lujan-Fryns, and Ohdo). Here, we describe six families with missense variants in MED12 (p.(Arg815Gln), p.(Val954Gly), p.(Glu1091Lys), p.(Arg1295Cys), p.(Pro1371Ser), and...
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