A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

Cali, 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; Celik, Tamer; NARLI, NEJAT; Bianca, Sebastiano; Murphy, David; Moreira, Francisco; Accogli, Andrea; Petree, Cassidy; Huang, Kevin; Monastiri, Kamel; Edizadeh, Masoud; Nardello, Rosaria; Ognibene, Marzia; De Marco, Patrizia; Ruggieri, Martino; Zara, Federico; Striano, Pasquale; Sahin, Yavuz; Al-Gazali, Lihadh; Warde, Marie; Gerard, Benedicte; Zifarelli, Giovanni; Beetz, Christian; Fortuna, Sara; Soler, Miguel; Valente, Enza; Varshney, Gaurav; Maroofian, Reza; Salpietro, Vincenzo; Houlden, Henry

doi:10.1016/j.gim.2022.07.013

A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease

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Cali E., Lin S., Rocca C., Sahin Y., Al Shamsi A., El Chehadeh S., ...More

GENETICS IN MEDICINE, vol.24, no.10, pp.2194-2203, 2022 (SCI-Expanded)

Publication Type: Article / Article
Volume: 24 Issue: 10
Publication Date: 2022
Doi Number: 10.1016/j.gim.2022.07.013
Journal Name: GENETICS IN MEDICINE
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, BIOSIS, CAB Abstracts, EMBASE, MEDLINE
Page Numbers: pp.2194-2203
Keywords: Human mediator complex, MED11, MEDopathies, INTELLECTUAL DISABILITY, MEDIATOR, MUTATION, COMPLEX
Çukurova University Affiliated: Yes

Abstract

Purpose: 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.