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) identifier identifier identifier

  • 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.