Article
MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia.
Annals of neurology - 1 Apr 2021
Meng Linyan, Isohanni Pirjo, Shao Yunru, Graham Brett H, Hickey Scott E, Brooks Stephanie, Suomalainen Anu, Joset Pascal, Steindl Katharina, Rauch Anita, Hackenberg Annette, High Frances A, Armstrong-Javors Amy, Mencacci Niccolò E, Gonzàlez-Latapi Paulina, Kamel Walaa A, Al-Hashel Jasem Y, Bustos Bernabé I, Hernandez Alejandro V, Krainc Dimitri, Lubbe Steven J, Van Esch Hilde, De Luca Chiara, Ballon Katleen, Ravelli Claudia, Burglen Lydie, Qebibo Leila, Calame Daniel G, Mitani Tadahiro, Marafi Dana, Pehlivan Davut, Saadi Nebal W, Sahin Yavuz, Maroofian Reza, Efthymiou Stephanie, Houlden Henry, Maqbool Shazia, Rahman Fatima, Gu Shen, Posey Jennifer E, Lupski James R, Hunter Jill V, Wangler Michael F, Carroll Christopher J, Yang Yaping
Abstract excerpt
The Mediator multiprotein complex functions as a regulator of RNA polymerase II-catalyzed gene transcription. In this study, exome sequencing detected biallelic putative disease-causing variants in MED27, encoding Mediator complex subunit 27, in 16 patients from 11 families with a novel neurodevelopmental syndrome. Patient phenotypes are highly homogeneous, including global developmental delay, intellectual...
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