Biallelic variants in CTU2 cause DREAM‐PL syndrome and impair thiolation of tRNA wobble U34

Author:

Shaheen Ranad1,Mark Paul2,Prevost Christopher T.3,AlKindi Adila4,Alhag Ahmad5,Estwani Fatima5,Al‐Sheddi Tarfa1,Alobeid Eman1,Alenazi Mona M.1,Ewida Nour1,Ibrahim Niema1,Hashem Mais1,Abdulwahab Firdous1,Bryant Emily M.67,Spinelli Egidio6,Millichap John68,Barnett Sarah S.9,Kearney Hutton M.9,Accogli Andrea10,Scala Marcello1110,Capra Valeria11,Nigro Vincenzo1213,Fu Dragony3ORCID,Alkuraya Fowzan S.114ORCID

Affiliation:

1. Department of Genetics King Faisal Specialist Hospital and Research Center Saudi Arabia

2. Spectrum Health Division of Medical Genetics Grand Rapids Michigan

3. Department of Biology, Center for RNA Biology University of Rochester Rochester New York

4. Genetics Department Sultan Qaboos University Hospital Muscat Oman

5. Department of Pediatrics Specialized Medical Center Hospital Riyadh Saudi Arabia

6. Epilepsy Center and Division of Neurology Ann & Robert H Lurie Children's Hospital of Chicago Chicago Illinois

7. Center for Genetic Medicine, Northwestern University Feinberg School of Medicine Chicago Illinois

8. Department of Pediatrics and Neurology Northwestern University Feinberg School of Medicine Chicago Illinois

9. Department of Laboratory Medicine and Pathology Mayo Clinic Rochester Minnesota

10. Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, Istituto Giannina Gaslini University of Genoa Genoa Italy

11. Department of Neurosurgery IRCCS Istituto Giannina Gaslini Genoa Italy

12. Telethon Institute of Genetics and Medicine, Pozzuoli Naples Italy

13. Department of Precision Medicine University of Campania ‘Luigi Vanvitelli’ Naples Italy

14. Department of Anatomy and Cell Biology, College of Medicine Alfaisal University Riyadh Saudi Arabia

Publisher

Wiley

Subject

Genetics (clinical),Genetics

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