Biallelic <i>ZBTB11</i> Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders-Reference-Cited by-同舟云学术

Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders

Published:2024-06-20 Issue: Volume: Page:
ISSN:0885-3185
Container-title:Movement Disorders
language:en
Short-container-title:Movement Disorders

Author:

Ortigoza‐Escobar Juan Darío¹²³^ORCID,Zamani Mina⁴⁵⁶^ORCID,Dorison Nathalie⁷,Sadeghian Saeid⁸^ORCID,Azizimalamiri Reza⁸,Alvi Javeria Raza⁹^ORCID,Sultan Tipu⁹^ORCID,Galehdari Hamid⁵,Shariati Gholamreza⁶¹⁰^ORCID,Saberi Alihossein⁶¹⁰^ORCID,Leeuwen Lisette¹¹^ORCID,Zifarelli Giovanni¹²^ORCID,Bauer Peter¹²^ORCID,d'Hardemare Vincent⁷,Doummar Diane¹³^ORCID,Roze Emmanuel¹⁴^ORCID,Travaglini Lorena¹⁵^ORCID,Nicita Francesco¹⁶^ORCID,Ojea Ponce Núria¹⁷^ORCID,Zahraei Seyed Mohammadsaleh⁵^ORCID,Alabdi Lama¹⁸,Tamim Abdullah¹⁹²⁰^ORCID,Hashem Mais O.¹⁸,Ababneh Faroug¹⁹²⁰,Morrow Michelle M²¹^ORCID,Curry Cynthia²²,Tam Allison²³^ORCID,Ruedy Jessica²⁴,Bhambhani Vikas²⁴,Veith Regan²⁴,Strømme Petter²⁵^ORCID,Efthymiou Stephanie⁴^ORCID,Alkuraya Fowzan S¹⁸,Moreno‐De‐Luca Andres²⁶^ORCID,Burglen Lydie²⁷²⁸²⁹^ORCID,Houlden Henry⁴^ORCID,Maroofian Reza⁴

Affiliation:

1. Movement Disorders Unit, Pediatric Neurology Department Institut de Recerca, Hospital Sant Joan de Déu Barcelona Barcelona Spain

2. U‐703 Centre for Biomedical Research on Rare Diseases (CIBER‐ER), Instituto de Salud Carlos III Barcelona Spain

3. European Reference Network for Rare Neurological Diseases (ERN‐RND) Barcelona Spain

4. Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology London United Kingdom

5. Department of Biology, Faculty of Science Shahid Chamran University of Ahvaz Ahvaz Iran

6. Narges Medical Genetics and Prenatal Diagnosis Laboratory Ahvaz Iran

7. Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild Paris France

8. Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran

9. Department of Pediatric Neurology The Children's Hospital and the University of Child Health Sciences Lahore Pakistan

10. Department of Medical Genetics, Faculty of Medicine Ahvaz Jundishapur University of Medical Sciences Ahvaz Iran

11. Department of Genetics University Medical Center Groningen, University of Groningen Groningen The Netherlands

12. CENTOGENE GmbH Rostock Germany

13. AP‐HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, FHU I2D2 Paris France

14. Assistance Publique–Hôpitaux de Paris CHU Pitié‐Salpêtrière DMU Neurosciences et Sorbonne Université, INSERM, CNRS, Institut du Cerveau Paris France

15. Laboratory of Medical Genetics Translational Cytogenomics Research Unit, IRCCS, Bambino Gesù Children's Hospital Rome Italy

16. Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS Bambino Gesù Children's Hospital of Rome Rome Italy

17. Department of Statistics Institut de Recerca Sant Joan de Déu Barcelona Barcelona Spain

18. Department of Translational Genomics, Center for Genomic Medicine King Faisal Specialist Hospital and Research Center Riyadh Saudi Arabia

19. Division of Genetics, Department of Pediatrics King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA Riyadh Saudi Arabia

20. King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences Riyadh Saudi Arabia

21. GeneDx Gaithersburg Maryland USA

22. Department of Pediatrics Genetic Medicine, UCSF/Fresno Fresno California USA

23. Division of Medical Genetics, Department of Pediatrics University of California San Francisco San Francisco California USA

24. Genetics Clinic, Children's MN Minneapolis Minnesota USA

25. Division of Pediatrics and Adolescent Medicine, Oslo University Hospital and Faculty of Medicine, University of Oslo Oslo Norway

26. Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre Queen's University Faculty of Health Sciences Kingston Ontario Canada

27. Centre de Référence Maladies Rares “Malformations et Maladies Congénitales du Cervelet,” Hôpital Trousseau, APHP, Sorbonne University Paris France

28. Département de Génétique APHP, Sorbonne University Paris France

29. Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR Paris France

Abstract

AbstractBackgroundBiallelic ZBTB11 variants have previously been associated with an ultrarare subtype of autosomal recessive intellectual developmental disorder (MRT69).ObjectiveThe aim was to provide insights into the clinical and genetic characteristics of ZBTB11‐related disorders (ZBTB11‐RD), with a particular emphasis on progressive complex movement abnormalities.MethodsThirteen new and 16 previously reported affected individuals, ranging in age from 2 to 50 years, with biallelic ZBTB11 variants underwent clinical and genetic characterization.ResultsAll patients exhibited a range of neurodevelopmental phenotypes with varying severity, encompassing ocular and neurological features. Eleven new patients presented with complex abnormal movements, including ataxia, dystonia, myoclonus, stereotypies, and tremor, and 7 new patients exhibited cataracts. Deep brain stimulation was successful in treating 1 patient with generalized progressive dystonia. Our analysis revealed 13 novel variants.ConclusionsThis study provides additional insights into the clinical features and spectrum of ZBTB11‐RD, highlighting the progressive nature of movement abnormalities in the background of neurodevelopmental phenotype. © 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.

Publisher

Wiley

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