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

Abstract

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)
JournalBrain
DOIs
StatePublished - Aug 9 2021

ASJC Scopus subject areas

  • Clinical Neurology

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