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.
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease / Elisa, C., Sheng-Jia, L., Clarissa, R., Yavuz, S., Aisha, A.S., Salima, E.C., Myriam, C., Kshitij, M., Evangelia, G., Stephanie, E., Sniya, S., Alkyoni, A., Tamer, Ç., Nejat, N., Sebastiano, B., David, M., Francisco Martins, D.C.M., Null, A.A., Cassidy, P., Kevin, H., et al.. - In: GENETICS IN MEDICINE. - ISSN 1530-0366. - (2022). [10.1016/j.gim.2022.07.013]
A homozygous MED11 C-terminal variant causes a lethal neurodegenerative disease
Emanuele David;Filippo MantiMembro del Collaboration Group
;Serena GalosiMembro del Collaboration Group
;Francesca NardecchiaMembro del Collaboration Group
;Vincenzo LeuzziMembro del Collaboration Group
;Pasquale ParisiMembro del Collaboration Group
;
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.| File | Dimensione | Formato | |
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Note: Calì_A homozygous MED11 C-terminal variant_2022
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