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A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Authors :
Calì, Elisa Lin, Sheng-Jia Rocca, Clarissa Sahin, Yavuz Al Shamsi, Aisha El Chehadeh, Salima Chaabouni, Myriam Mankad, Kshitij Galanaki, Evangelia Efthymiou, Stephanie Sudhakar, Sniya Athanasiou-Fragkouli, Alkyoni Çelik, Tamer Narlı, Nejat Bianca, Sebastiano Murphy, David De Carvalho Moreira, Francisco Martins Hannah, Michael G. Bugiardini, Enrico Kriouile, Yamna El Khorassani, Mohamed Aguennouz, Mhammed Groppa, Stanislav Karashova, Blagovesta Marinova Di Rosa, Gabriella Goraya, Jatinder S. Sultan, Tipu Avdjieva, Daniela Kathom, Hadil Tincheva, Radka Banu, Selina Veggiotti, Pierangelo Verrotti, Alberto Savasta, Salvatore Ruiz, Alfons Macaya Garavaglia, Barbara Borgione, Eugenia Papacostas, Savvas Compagnoni, Chiara Piccirilli, Alessandra Vikelis, Michail Chelban, Viorica Kaiyrzhanov, Rauan Cortese, Andrea Sullivan, Roisin Papanicolaou, Eleni Zamba Dardiotis, Efthymios Maqbool, Shazia Ibrahim, Shahnaz Kirmani, Salman Rana, Nuzhat Noureen Atawneh, Osama Lim, Shen-Yang Shaikh, Farooq Scardamaglia, Annarita Koutsis, George Mangano, Salvatore Scuderi, Carmela Borgione, Eugenia Morello, Giovanna Zollo, Massimo Heimer, Gali Striano, Pasquale Al-Khawaja, Issam Al-Mutairi, Fuad Alkuraya, Fowzan S. Rizig, Mie Shashkin, Chingiz Zharkynbekova, Nazira Koneyev, Kairgali Manizha, Ganieva Isrofilov, Maksud Guliyeva, Ulviyya Salayev, Kamran Khachatryan, Samson Xiromerisiou, Georgia Spanaki, Cleanthe Tucci, Arianna Fiorillo, Chiara Rissotto, Federico Munell, Francina Gagliano, Antonella Jan, Farida Chimenz, Roberto Gitto, Eloisa Cuppari, Caterina Romeo, Carmelo Magrinelli, Francesca Gupta, Neerja Kabra, Madhulika Benrhouma, Hanene Tazir, Meriem Zagaroli, Luca Caloisi, Claudia Fabiano, Cecilia Bottone, Gabriella Farello, Giovanni Di Fabio, Sandra Obeid, Makram Bakhtadze, Sophia Saadi, Nebal W. Zaki, Maha S. Triki, Chahnez C. Kara, Majdi Belcastro, Vincenzo Specchio, Nicola Karimiani, Ehsan G. Salih, Ahmed M. Ramenghi, Luca A. David, Emanuele Curró, Riccardo Iezzi, Maria Laura Iapadre, Giulia Nanni, Giuliana Scorrano, Giovanna Fiorile, Maria F. Brancati, Francesco Di Falco, Giovanna Mandarà, Luana Barrano, Giuseppe Elia, Maurizio Terrone, Gaetano Operto, Francesca F. Valenzise, Mariella Della Rocca, Ylenia Zazzeroni, Francesca Alesse, Edoardo Manti, Filippo Galosi, Serena Nardecchia, Francesca Leuzzi, Vincenzo Pironti, Erica Amore, Greta Ceravolo, Giorgia Zafar, Faisal Ullah, Ehsan Afzal, Erum Javed, Iram Rahman, Fatima Ahmed, Muhammad Mehboob Parisi, Pasquale Borgia, Paola Mangano, Giuseppe D. Chiarelli, Francesco Genomics, Queen Square Accogli, Andrea Petree, Cassidy Huang, Kevin Monastiri, Kamel Edizadeh, Masoud Nardello, Rosaria Ognibene, Marzia De Marco, Patrizia Ruggieri, Martino Zara, Federico Striano, Pasquale Şahin, Yavuz Al-Gazali, Lihadh Abi Warde, Marie Therese Gerard, Benedicte Zifarelli, Giovanni Beetz, Christian Fortuna, Sara Soler, Miguel Valente, Enza Maria Varshney, Gaurav Maroofian, Reza Salpietro, Vincenzo Houlden, Henry
Source :
Genetics in Medicine; October 2022, Vol. 24 Issue: 10 p2194-2203, 10p
Publication Year :
2022
Abstract
The mediator (MED) multisubunit-complex modulates the activity of the transcriptional machinery, and genetic defects in different MED subunits (17, 20, 27) have been implicated in neurologic diseases. In this study, we identified a recurrent homozygous variant in MED11(c.325C>T; p.Arg109Ter) in 7 affected individuals from 5 unrelated families.
Details
Language :
English
ISSN :
10983600 and 15300366
Volume :
24
Issue :
10
Database :
Supplemental Index
Journal :
Genetics in Medicine
Publication Type :
Periodical
Accession number :
ejs61982713
Full Text :
https://doi.org/10.1016/j.gim.2022.07.013