Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

Eva Medico Salsench, Reza Maroofian, Ruizhi Deng, Kristina Lanko, Anita Nikoncuk, Belén Pérez, Obdulia Sánchez-Lijarcio, Salvador Ibáñez-Mico, Antonina Wojcik, Marcelo Vargas, Nouriya Abbas Al-Sannaa, Marian Y Girgis, Tainá Regina Damaceno Silveira, Peter Bauer, Audrey Schroeder, Chin-To Fong, Amber Begtrup, Meisam Babaei, Mehran Beiraghi Toosi, Farah AshrafzadehShima Imannezhad, Mohammad Doosti, Najmeh Ahangari, Paria Najarzadeh Torbati, Ehsan Ghayoor Karimiani, David Murphy, Elisa Cali, Ibrahim H Kaya, Mohammad AlMuhaizea, Dilek Colak, Kelly J Cardona-Londoño, Stefan T. Arold, Henry Houlden, Aida Bertoli-Avella, Namik Kaya, Tahsin Stefan Barakat

Research output: Contribution to journalArticlepeer-review

2 Scopus citations


With great interest we read the article by Diaz and colleagues1 providing further evidence of a neurodevelopmental disorder caused by bi-allelic variants disrupting the function of YIF1B, by reporting a second patient cohort and a mouse model. We had earlier reported 6 individuals from 5 unrelated families, harboring bi-allelic protein truncating mutations in YIF1B, presenting with a progressive encephalopathy with various degrees of movement disorders, microcephaly and epilepsy2.
Original languageEnglish (US)
StatePublished - Aug 9 2021

Bibliographical note

KAUST Repository Item: Exported on 2021-08-12
Acknowledged KAUST grant number(s): FCC/1/1976-25, OSR, REI/1/4446-01
Acknowledgements: RD is supported by a China Scholarship Council (CSC) PhD Fellowship (201906300026) for her PhD studies at the Erasmus Medical Center, Rotterdam, the Netherlands. BP was funded by PI19/01155 and B2017/BMD-3721. The work by KJCL and STA was supported by the
King Abdullah University of Science and Technology (KAUST) through the baseline fund and the Award No. FCC/1/1976-25 and REI/1/4446-01 from the Office of Sponsored Research (OSR). NK’s lab is supported by KFSHRC seed grants (RAC2120022), King Salman Center
for Disability Research (KSCDR#2180 004) and King Abdulaziz City for Science and Technology (KACST#14-MED2007-20). TSB’s lab is supported by the Netherlands Organization for Scientific Research (ZonMw Veni, Grant 91617021), an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.

ASJC Scopus subject areas

  • Clinical Neurology


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