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

Research output: Contribution to journal › Article › peer-review

2 Scopus citations

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

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

Access to Document

10.1093/brain/awab297

Cite this

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

Bibliographical note

ASJC Scopus subject areas

Access to Document

Other files and links

Fingerprint

Cite this