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Developmental defects
Original research
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration

Authors

  • Maria Lisa Dentici Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalyGenetics and Rare Diseases Research Division, Bambino Gesù Children's Hospital, Rome, Italy PubMed articlesGoogle scholar articles
  • Viola Alesi Medical Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  • Mathieu Quinodoz Institute of Molecular and Clinical Ophthalmology Basel, Basel, SwitzerlandDepartment of Ophthalmology, University of Basel, Basel, Switzerland PubMed articlesGoogle scholar articles
  • Barbara Robens Department of Neurology, F.M. Kirby Neurobiology Center, Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children’s Hospital, Boston, Massachusetts, USADivision of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Andrea Guerin Division of Medical Genetics, Department of Pediatrics, Kingston Health Sciences Centre, Queen's University, Kingston, Ontario, Canada PubMed articlesGoogle scholar articles
  • Sébastien Lebon Unit of Pediatric Neurology and Neurorehabilitation Unit, Division of Pediatrics, Department Woman-Mother-Child, Lausanne University Hospital (CHUV), Lausanne, Switzerland PubMed articlesGoogle scholar articles
  • Annapurna Poduri Department of Neurology, F.M. Kirby Neurobiology Center, Division of Epilepsy and Clinical Neurophysiology and Epilepsy Genetics Program, Boston Children’s Hospital, Boston, Massachusetts, USADivision of Epilepsy and Clinical Neurophysiology, Boston Children’s Hospital, Boston, Massachusetts, USA PubMed articlesGoogle scholar articles
  • Lorena Travaglini Unit of Neuromuscular and Neurodegenerative Diseases, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  • Federica Graziola Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, ItalyNeuroscience department, Tor Vergata University, Rome, Italy PubMed articlesGoogle scholar articles
  • Alexandra Afenjar CRMR Déficiences Intellectuelles de Causes Rares, Département de Génétique, Sorbonne Université, APHP, Hôpital Trousseau, Paris, France PubMed articlesGoogle scholar articles
  • Boris Keren APHP, Département de Génétique, Groupe Hospitalier Pitié Salpêtrière, Paris, France PubMed articlesGoogle scholar articles
  • Valerio Licursi Dept. of Biology and Biotechnology, "Charles Darwin", Sapienza University of Rome, Rome, Italy PubMed articlesGoogle scholar articles
  • Alessandro Capuano Neurology Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  • Bruno Dallapiccola Genetics and Rare Diseases Research Division, Bambino Gesù Children’s Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  • Andrea Superti-Furga Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland PubMed articlesGoogle scholar articles
  • Antonio Novelli Medical Genetics Laboratory, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy PubMed articlesGoogle scholar articles
  1. Correspondence to Dr Maria Lisa Dentici, Medical Genetics Unit, Academic Department of Pediatrics, Bambino Gesù Pediatric Hospital, Roma, Italy; marialisa.dentici{at}opbg.net
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Citation

Dentici ML, Alesi V, Quinodoz M, et al
Biallelic variants in ZNF526 cause a severe neurodevelopmental disorder with microcephaly, bilateral cataract, epilepsy and simplified gyration
Journal of Medical Genetics Published Online First: 04 January 2021. doi: 10.1136/jmedgenet-2020-107430

Publication history

  • Received August 28, 2020
  • Revised December 4, 2020
  • Accepted December 19, 2020
  • First published January 4, 2021.

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© Author(s) (or their employer(s)) 2021. No commercial re-use. See rights and permissions. Published by BMJ.