Linyan Meng, Pirjo Isohanni, Yunru Shao, Brett H Graham, Scott E Hickey, Stephanie Brooks, Anu Suomalainen, Pascal Joset, Katharina Steindl, Anita Rauch, Annette Hackenberg, Frances A High, Amy Armstrong-Javors, Niccolò E Mencacci, Paulina Gonzàlez-Latapi, Walaa A Kamel, Jasem Y Al-Hashel, Bernabé I Bustos, Alejandro V Hernandez, Dimitri Krainc, Steven J Lubbe, Hilde Van Esch, Chiara De Luca, Katleen Ballon, Claudia Ravelli, Lydie Burglen, Leila Qebibo, Daniel G Calame, Tadahiro Mitani, Dana Marafi, Davut Pehlivan, Nebal Waill Saadi, Yavuz Sahin, Reza Maroofian, Stephanie Efthymiou, Henry Houlden, Shazia Maqbool, Fatima Rahman, Shen Gu, Jennifer E Posey, James R Lupski, Jill V Hunter, Michael F Wangler, Christopher J Carroll, Yaping Yang
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing (ES) detected biallelic putative disease-causing variants in MED27, encoding Mediator Complex Subunit 27, in sixteen patients from eleven families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous including global developmental delay, intellectual disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia...
January 14, 2021: Annals of Neurology