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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Articles from TUHAT CRIS [45025]