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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy

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Acknowledgements

We are grateful to the patient families for their participation. This research was conducted through intramural funds (RAC# 2120022, 2180004, 2110006) provided by King Faisal Specialist Hospital and Research Centre (KFSHRC). We would like to thank National Plan for Science, Technology and Innovation program under King Abdulaziz City for Science and Technology (NSTIP/KACST) for supporting NK and DC. We thank the King Salman Center for Disability Research for generous funds for NK. We thank the KFSHRC Genotyping and Sequencing Core Facilities at Genetics Department, Research Advisory Council Committees, Saudi Human Genome Program and Purchasing Department (Mr. Faisal Al Otaibi) for facilitating and expediting our requests. The research by STA was supported by funding from King Abdullah University of Science and Technology (KAUST) through the Award No. FCC1/1976-25 form the Office of Sponsored Research. TSB is supported by the Netherlands Organization for Scientific Research (ZonMW Veni, Grant 91617021), a Brain & Behavior Research Foundation NARSAD Young Investigator Grant, an Erasmus MC Fellowship 2017 and Erasmus MC Human Disease Model Award 2018.

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Author notes

  1. Mohammed AlMuhaizea, and Rawan AlMass have equal contribution.

Authors and Affiliations

  1. Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia

    Mohammed AlMuhaizea & Aziza Chedrawi

  2. College of Medicine, AlFaisal University, Riyadh, Saudi Arabia

    Mohammed AlMuhaizea & Ibrahim H. Kaya

  3. Department of Genetics, KFSHRC, Riyadh, Saudi Arabia

    Rawan AlMass, Aljouhra AlHargan, Anoud AlBader, Jude Howaidi, Jumanah AlSufayan, Laila AlQuait & Namik Kaya

  4. Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands

    Eva Medico Salsench & Tahsin Stefan Barakat

  5. University of Minnesota Medical Center, Minneapolis, MN, 55455, USA

    Jacie Ihinger

  6. Department of Neurology, University of Minnesota, Minneapolis, MN, 55455, USA

    Peter Karachunski

  7. GeneDx, Gaithersburg, MD, 20877, USA

    Amber Begtrup

  8. CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany

    Monica Segura Castell, Peter Bauer & Aida Bertoli-Avella

  9. Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia

    Stefan T. Arold

  10. Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France

    Stefan T. Arold

  11. Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia

    Dilek Colak

Authors
  1. Mohammed AlMuhaizea
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  2. Rawan AlMass
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  3. Aljouhra AlHargan
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  4. Anoud AlBader
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  5. Eva Medico Salsench
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  6. Jude Howaidi
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  8. Peter Karachunski
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  9. Amber Begtrup
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  10. Monica Segura Castell
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  11. Peter Bauer
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  12. Aida Bertoli-Avella
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  13. Ibrahim H. Kaya
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  14. Jumanah AlSufayan
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  15. Laila AlQuait
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  16. Aziza Chedrawi
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  17. Stefan T. Arold
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  18. Dilek Colak
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  19. Tahsin Stefan Barakat
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  20. Namik Kaya
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Contributions

NK conceived and designed the experiments. RAM, AAH, JH, JAS, LAQ and AB performed experiments. DC, MS, PB, ABA, AB analyzed data. DC performed bioinformatics, pathway and network analyses. SA performed protein modeling. MAM, LAQ collected specimen. MAM handled biopsies, undertook patient care and management, collected clinical data, and delineated the patients’ phenotype (F1, F2, and F3). AC helped MAM to recruit one patient. TB, MSC, PB, AB-A, JI, PK collected clinical data (F4, F5). NK, TSB, EMS, MAM, DC, JH, IHK wrote the paper.

Corresponding authors

Correspondence to Tahsin Stefan Barakat or Namik Kaya.

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Conflict of interest

MSC, PB and ABA are employees of CENTOGENE AG. AB is an employee of GeneDx. The other authors declare no conflict of interest.

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AlMuhaizea, M., AlMass, R., AlHargan, A. et al. Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy. Acta Neuropathol 139, 791–794 (2020). https://doi.org/10.1007/s00401-020-02128-8

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  • DOI: https://doi.org/10.1007/s00401-020-02128-8

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