MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia

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Meng , L , Isohanni , P , Shao , Y , Graham , B H , Hickey , S E , Brooks , S , Suomalainen , A , Joset , P , Steindl , K , Rauch , A , Hackenberg , A , High , F A , Armstrong-Javors , A , Mencacci , N E , Gonzalez-Latapi , P , Kamel , W A , Al-Hashel , J Y , Bustos , B , Hernandez , A , Krainc , D , Lubbe , S J , Van Esch , H , De Luca , C , Ballon , K , Ravelli , C , Burglen , L , Qebibo , L , Calame , D G , Mitani , T , Marafi , D , Pehlivan , D , Saadi , N W , Sahin , Y , Maroofian , R , Efthymiou , S , Houlden , H , Maqbool , S , Rahman , F , Gu , S , Posey , J E , Lupski , J R , Hunter , J , Wangler , M F , Carroll , C J & Yang , Y 2021 , ' MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia ' , Annals of Neurology , vol. 89 , no. 4 , pp. 828-833 . https://doi.org/10.1002/ana.26019

Title: MED27 Variants Cause Developmental Delay, Dystonia, and Cerebellar Hypoplasia
Author: 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, Niccolo E.; Gonzalez-Latapi, Paulina; Kamel, Walaa A.; Al-Hashel, Jasem Y.; Bustos, Bernabe; Hernandez, Alejandro; 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; Wangler, Michael F.; Carroll, Christopher J.; Yang, Yaping
Contributor organization: HUS Children and Adolescents
Research Programs Unit
Anu Wartiovaara / Principal Investigator
Children's Hospital
Clinicum
STEMM - Stem Cells and Metabolism Research Program
Faculty of Medicine
University of Helsinki
Lastenneurologian yksikkö
Helsinki University Hospital Area
HUS Helsinki and Uusimaa Hospital District
FinMIT Centre of Excellence (Wartiovaara Anu)
Date: 2021-04
Language: eng
Number of pages: 6
Belongs to series: Annals of Neurology
ISSN: 0364-5134
DOI: https://doi.org/10.1002/ana.26019
URI: http://hdl.handle.net/10138/340557
Abstract: 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 disability, axial hypotonia with distal spasticity, dystonic movements, and cerebellar hypoplasia. Seizures and cataracts were noted in severely affected individuals. Identification of multiple patients with biallelic MED27 variants supports the critical role of MED27 in normal human neural development, particularly for the cerebellum. ANN NEUROL 2021
Subject: 3112 Neurosciences
3124 Neurology and psychiatry
Peer reviewed: Yes
Usage restriction: openAccess
Self-archived version: acceptedVersion


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