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 Ashrafzadeh; Shima 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

doi:10.1093/brain/awab297

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

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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 language	English (US)
Journal	Brain
DOIs	https://doi.org/10.1093/brain/awab297
State	Published - Aug 9 2021

ASJC Scopus subject areas

Clinical Neurology

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10.1093/brain/awab297

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Salsench, E. M., Maroofian, R., Deng, R., Lanko, K., Nikoncuk, A., Pérez, B., Sánchez-Lijarcio, O., Ibáñez-Mico, S., Wojcik, A., Vargas, M., Al-Sannaa, N. A., Girgis, M. Y., Silveira, T. R. D., Bauer, P., Schroeder, A., Fong, C.-T., Begtrup, A., Babaei, M., Toosi, M. B., ... Barakat, T. S. (2021). Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder. Brain. https://doi.org/10.1093/brain/awab297

@article{108d33d39d7644fdb57b695c5e6cc50b,

title = "Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder",

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.",

author = "Salsench, {Eva Medico} and Reza Maroofian and Ruizhi Deng and Kristina Lanko and Anita Nikoncuk and Bel{\'e}n P{\'e}rez and Obdulia S{\'a}nchez-Lijarcio and Salvador Ib{\'a}{\~n}ez-Mico and Antonina Wojcik and Marcelo Vargas and Al-Sannaa, {Nouriya Abbas} and Girgis, {Marian Y} and Silveira, {Tain{\'a} Regina Damaceno} and Peter Bauer and Audrey Schroeder and Chin-To Fong and Amber Begtrup and Meisam Babaei and Toosi, {Mehran Beiraghi} and Farah Ashrafzadeh and Shima Imannezhad and Mohammad Doosti and Najmeh Ahangari and Torbati, {Paria Najarzadeh} and Karimiani, {Ehsan Ghayoor} and David Murphy and Elisa Cali and Kaya, {Ibrahim H} and Mohammad AlMuhaizea and Dilek Colak and Cardona-Londo{\~n}o, {Kelly J} and Arold, {Stefan T.} and Henry Houlden and Aida Bertoli-Avella and Namik Kaya and Barakat, {Tahsin Stefan}",

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{\textquoteright}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{\textquoteright}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.",

year = "2021",

month = aug,

day = "9",

doi = "10.1093/brain/awab297",

language = "English (US)",

journal = "Brain",

issn = "0006-8950",

publisher = "Oxford University Press",

}

Salsench, EM, Maroofian, R, Deng, R, Lanko, K, Nikoncuk, A, Pérez, B, Sánchez-Lijarcio, O, Ibáñez-Mico, S, Wojcik, A, Vargas, M, Al-Sannaa, NA, Girgis, MY, Silveira, TRD, Bauer, P, Schroeder, A, Fong, C-T, Begtrup, A, Babaei, M, Toosi, MB, Ashrafzadeh, F, Imannezhad, S, Doosti, M, Ahangari, N, Torbati, PN, Karimiani, EG, Murphy, D, Cali, E, Kaya, IH, AlMuhaizea, M, Colak, D, Cardona-Londoño, KJ, Arold, ST, Houlden, H, Bertoli-Avella, A, Kaya, N & Barakat, TS 2021, 'Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder', Brain. https://doi.org/10.1093/brain/awab297

TY - JOUR

T1 - Expanding the mutational landscape and clinical phenotype of the YIF1B related brain disorder

AU - Salsench, Eva Medico

AU - Maroofian, Reza

AU - Deng, Ruizhi

AU - Lanko, Kristina

AU - Nikoncuk, Anita

AU - Pérez, Belén

AU - Sánchez-Lijarcio, Obdulia

AU - Ibáñez-Mico, Salvador

AU - Wojcik, Antonina

AU - Vargas, Marcelo

AU - Al-Sannaa, Nouriya Abbas

AU - Girgis, Marian Y

AU - Silveira, Tainá Regina Damaceno

AU - Bauer, Peter

AU - Schroeder, Audrey

AU - Fong, Chin-To

AU - Begtrup, Amber

AU - Babaei, Meisam

AU - Toosi, Mehran Beiraghi

AU - Ashrafzadeh, Farah

AU - Imannezhad, Shima

AU - Doosti, Mohammad

AU - Ahangari, Najmeh

AU - Torbati, Paria Najarzadeh

AU - Karimiani, Ehsan Ghayoor

AU - Murphy, David

AU - Cali, Elisa

AU - Kaya, Ibrahim H

AU - AlMuhaizea, Mohammad

AU - Colak, Dilek

AU - Cardona-Londoño, Kelly J

AU - Arold, Stefan T.

AU - Houlden, Henry

AU - Bertoli-Avella, Aida

AU - Kaya, Namik

AU - Barakat, Tahsin Stefan

N1 - 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.

PY - 2021/8/9

Y1 - 2021/8/9

N2 - 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.

AB - 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.

UR - http://hdl.handle.net/10754/670556

UR - https://academic.oup.com/brain/advance-article/doi/10.1093/brain/awab297/6346981

U2 - 10.1093/brain/awab297

DO - 10.1093/brain/awab297

M3 - Article

C2 - 34373908

SN - 0006-8950

JO - Brain

JF - Brain

ER -

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

Abstract

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