Biallelic ZBTB11 Variants: A Neurodevelopmental Condition with Progressive Complex Movement Disorders
Por:
Ortigoza-Escobar JD, Zamani M, Dorison N, Sadeghian S, Azizimalamiri R, Alvi JR, Sultan T, Galehdari H, Shariati G, Saberi A, Leeuwen L, Zifarelli G, Bauer P, d'Hardemare V, Doummar D, Roze E, Travaglini L, Nicita F, Ojea Ponce N, Zahraei SM, Alabdi L, Tamim A, Hashem MO, Ababneh F, Morrow MM, Curry C, Tam A, Ruedy J, Bhambhani V, Veith R, Strømme P, Efthymiou S, Alkuraya FS, Moreno-De-Luca A, Burglen L, Houlden H and Maroofian R
Publicada:
1 sep 2024
Ahead of Print:
1 jun 2024
Resumen:
BackgroundBiallelic 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. (c) 2024 The Author(s). Movement Disorders published by Wiley Periodicals LLC on behalf of International Parkinson and Movement Disorder Society.
Filiaciones:
Ortigoza-Escobar JD:
Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu Barcelona, Barcelona, Spain
U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain
European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain
Zamani M:
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran
Dorison N:
Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France
Sadeghian S:
Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Azizimalamiri R:
Department of Pediatric Neurology, Golestan Medical, Educational, and Research Centre, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Alvi JR:
Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan
Sultan T:
Department of Pediatric Neurology, The Children's Hospital and the University of Child Health Sciences, Lahore, Pakistan
Galehdari H:
Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
Shariati G:
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran
Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Saberi A:
Narges Medical Genetics and Prenatal Diagnosis Laboratory, Ahvaz, Iran
Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran
Leeuwen L:
Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands
Zifarelli G:
CENTOGENE GmbH, Rostock, Germany
Bauer P:
CENTOGENE GmbH, Rostock, Germany
d'Hardemare V:
Unité Dyspa, Neurochirurgie Pédiatrique, Hôpital Fondation Rothschild, Paris, France
Doummar D:
AP-HP. Sorbonne Université, Service de Neuropédiatrie et Centre de Référence Neurogénétique, Hôpital Armand Trousseau, FHU I2D2, Paris, France
Roze E:
Assistance Publique-Hôpitaux de Paris CHU Pitié-Salpêtrière DMU Neurosciences et Sorbonne Université, INSERM, CNRS, Institut du Cerveau, Paris, France
Travaglini L:
Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, IRCCS, Bambino Gesù Children's Hospital, Rome, Italy
Nicita F:
Unit of Neuromuscular and Neurodegenerative Disorders, IRCCS, Bambino Gesù Children's Hospital of Rome, Rome, Italy
:
Department of Statistics, Institut de Recerca Sant Joan de Déu Barcelona, Barcelona, Spain
Zahraei SM:
Department of Biology, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz, Iran
Alabdi L:
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Tamim A:
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia
King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Hashem MO:
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Ababneh F:
Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, Riyadh, Saudi Arabia
King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, Riyadh, Saudi Arabia
Morrow MM:
GeneDx, Gaithersburg, Maryland, USA
Curry C:
Department of Pediatrics, Genetic Medicine, UCSF/Fresno, Fresno, California, USA
Tam A:
Division of Medical Genetics, Department of Pediatrics, University of California San Francisco, San Francisco, California, USA
Ruedy J:
Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA
Bhambhani V:
Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA
Veith R:
Genetics Clinic, Children's MN, Minneapolis, Minnesota, USA
Strømme P:
Division of Pediatrics and Adolescent Medicine, Oslo, University Hospital and Faculty of Medicine, University of Oslo, Oslo, Norway
Efthymiou S:
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
Alkuraya FS:
Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia
Moreno-De-Luca A:
Department of Radiology, Neuroradiology Section, Kingston Health Sciences Centre, Queen's University Faculty of Health Sciences, Kingston, Ontario, Canada
Burglen L:
Centre de Référence Maladies Rares "Malformations et Maladies Congénitales du Cervelet," Hôpital Trousseau, APHP, Sorbonne University, Paris, France
Département de Génétique, APHP, Sorbonne University, Paris, France
Developmental Brain Disorders Laboratory, Imagine Institute, INSERM UMR, Paris, France
Houlden H:
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
Maroofian R:
Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom
Green Submitted, hybrid
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