Nature Communications (Jan 2020)
Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
- Holger Hengel,
- Célia Bosso-Lefèvre,
- George Grady,
- Emmanuelle Szenker-Ravi,
- Hankun Li,
- Sarah Pierce,
- Élise Lebigot,
- Thong-Teck Tan,
- Michelle Y. Eio,
- Gunaseelan Narayanan,
- Kagistia Hana Utami,
- Monica Yau,
- Nader Handal,
- Werner Deigendesch,
- Reinhard Keimer,
- Hiyam M. Marzouqa,
- Meral Gunay-Aygun,
- Michael J. Muriello,
- Helene Verhelst,
- Sarah Weckhuysen,
- Sonal Mahida,
- Sakkubai Naidu,
- Terrence G. Thomas,
- Jiin Ying Lim,
- Ee Shien Tan,
- Damien Haye,
- Michèl A. A. P. Willemsen,
- Renske Oegema,
- Wendy G. Mitchell,
- Tyler Mark Pierson,
- Marisa V. Andrews,
- Marcia C. Willing,
- Lance H. Rodan,
- Tahsin Stefan Barakat,
- Marjon van Slegtenhorst,
- Ralitza H. Gavrilova,
- Diego Martinelli,
- Tal Gilboa,
- Abdullah M. Tamim,
- Mais O. Hashem,
- Moeenaldeen D. AlSayed,
- Maha M. Abdulrahim,
- Mohammed Al-Owain,
- Ali Awaji,
- Adel A. H. Mahmoud,
- Eissa A. Faqeih,
- Ali Al Asmari,
- Sulwan M. Algain,
- Lamyaa A. Jad,
- Hesham M. Aldhalaan,
- Ingo Helbig,
- David A. Koolen,
- Angelika Riess,
- Ingeborg Kraegeloh-Mann,
- Peter Bauer,
- Suleyman Gulsuner,
- Hannah Stamberger,
- Alvin Yu Jin Ng,
- Sha Tang,
- Sumanty Tohari,
- Boris Keren,
- Laura E. Schultz-Rogers,
- Eric W. Klee,
- Sabina Barresi,
- Marco Tartaglia,
- Hagar Mor-Shaked,
- Sateesh Maddirevula,
- Amber Begtrup,
- Aida Telegrafi,
- Rolph Pfundt,
- Rebecca Schüle,
- Brian Ciruna,
- Carine Bonnard,
- Mahmoud A. Pouladi,
- James C. Stewart,
- Adam Claridge-Chang,
- Dirk J. Lefeber,
- Fowzan S. Alkuraya,
- Ajay S. Mathuru,
- Byrappa Venkatesh,
- Joseph J. Barycki,
- Melanie A. Simpson,
- Saumya S. Jamuar,
- Ludger Schöls,
- Bruno Reversade
Affiliations
- Holger Hengel
- Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen
- Célia Bosso-Lefèvre
- Institute of Medical Biology, A*STAR, Biopolis
- George Grady
- Department of Molecular and Structural Biochemistry North Carolina State University
- Emmanuelle Szenker-Ravi
- Institute of Medical Biology, A*STAR, Biopolis
- Hankun Li
- Yale-NUS College, 12 College Avenue West, Biopolis
- Sarah Pierce
- Division of Medical Genetics, Department of Medicine, University of Washington
- Élise Lebigot
- Service De Biochimie, Hopital Bicêtre, Assistance publique-Hôpitaux de Paris, 78 avenue du general leclerc
- Thong-Teck Tan
- Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis
- Michelle Y. Eio
- Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis
- Gunaseelan Narayanan
- Institute of Medical Biology, Singapore Stem Cell Bank, A∗STAR, Biopolis
- Kagistia Hana Utami
- Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5
- Monica Yau
- Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto
- Nader Handal
- Caritas Baby Hospital Bethlehem
- Werner Deigendesch
- Caritas Baby Hospital Bethlehem
- Reinhard Keimer
- Ped Neurology, Staufer Hospital
- Hiyam M. Marzouqa
- Caritas Baby Hospital Bethlehem
- Meral Gunay-Aygun
- McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
- Michael J. Muriello
- McKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
- Helene Verhelst
- Department of Paediatric Neurology, Ghent University Hospital
- Sarah Weckhuysen
- Center for Molecular Neurology, VIB
- Sonal Mahida
- Division of Neurology and Neurogenetics, Kennedy Krieger Institute
- Sakkubai Naidu
- Division of Neurology and Neurogenetics, Kennedy Krieger Institute
- Terrence G. Thomas
- Neurology Service, Department of Paediatrics, KK Women’s and Children’s Hospital
- Jiin Ying Lim
- Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital
- Ee Shien Tan
- Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital
- Damien Haye
- Service de Génétique Médicale, CHU De Nice Hôpital de l’Archet 2, 151 route Saint Antoine de la Ginestière, CS 23079 062002
- Michèl A. A. P. Willemsen
- Department of Pediatric Neurology, Radboud University Medical Center
- Renske Oegema
- Department of Genetics, University Medical Center Utrecht
- Wendy G. Mitchell
- Neurology Division, Childrens Hospital Los Angeles & Department of Neurology, Keck School of Medicine of University of Southern California
- Tyler Mark Pierson
- Department of Pediatrics, Department of Neurology, & the Board of Governors Regenerative Medicine Institute, Cedars-Sinai Medical Center
- Marisa V. Andrews
- Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine
- Marcia C. Willing
- Division of Genetics and Genomic Medicine, Department of Pediatrics, Washington University School of Medicine
- Lance H. Rodan
- Division of Genetics and Genomics and Department of Neurology, Boston Children’s Hospital
- Tahsin Stefan Barakat
- Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80
- Marjon van Slegtenhorst
- Department of Clinical Genetics, Erasmus MC, University Medical Center, Wytemaweg 80
- Ralitza H. Gavrilova
- Department of Clinical Genomics, Mayo Clinic
- Diego Martinelli
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15
- Tal Gilboa
- Child Neurology Unit, Hadassah-Hebrew University Medical Center
- Abdullah M. Tamim
- Pediatric Neurology, King Faisal Specialist Hospital and Research Center
- Mais O. Hashem
- Department of Genetics, King Faisal Specialist Hospital and Research Center
- Moeenaldeen D. AlSayed
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Center
- Maha M. Abdulrahim
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Center
- Mohammed Al-Owain
- Department of Medical Genetics, King Faisal Specialist Hospital and Research Center
- Ali Awaji
- Department of Pediatrics, King Fahad Central Hospital in Jizan
- Adel A. H. Mahmoud
- Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City
- Eissa A. Faqeih
- Section of Medical Genetics, Children’s Hospital, King Fahad Medical City
- Ali Al Asmari
- Section of Medical Genetics, Children’s Hospital, King Fahad Medical City
- Sulwan M. Algain
- General Pediatrics and Adolescents, King Fahad Medical City
- Lamyaa A. Jad
- Pediatric Neurology Department, National Neuroscience Institute, King Fahad Medical City
- Hesham M. Aldhalaan
- Neuroscience Department King Faisal Specialist Hospital and Research Center
- Ingo Helbig
- Division of Neurology, The Children’s Hospital of Philadelphia
- David A. Koolen
- Department of Human Genetics, Radboud University Medical Center
- Angelika Riess
- Institute of Medical Genetics and Applied Genomics (Tübingen) and Centogene AG (Rostock)
- Ingeborg Kraegeloh-Mann
- Department of Pediatric Neurology, University of Tübingen
- Peter Bauer
- Institute of Medical Genetics and Applied Genomics (Tübingen) and Centogene AG (Rostock)
- Suleyman Gulsuner
- Division of Medical Genetics, Department of Medicine, University of Washington
- Hannah Stamberger
- Center for Molecular Neurology, VIB
- Alvin Yu Jin Ng
- Institute of Molecular and Cell Biology, A*STAR, Biopolis
- Sha Tang
- Division of Clinical Genomics, Ambry Genetics
- Sumanty Tohari
- Institute of Molecular and Cell Biology, A*STAR, Biopolis
- Boris Keren
- APHP, GH Pitié Salpêtrière, Department of Genetics, Unit of Development Genomics
- Laura E. Schultz-Rogers
- Department of Clinical Genomics, Mayo Clinic
- Eric W. Klee
- Department of Clinical Genomics, Mayo Clinic
- Sabina Barresi
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15
- Marco Tartaglia
- Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, IRCCS, viale San Paolo 15
- Hagar Mor-Shaked
- Department of Genetic and Metabolic Diseases, Hadassah-Hebrew University Medical Center
- Sateesh Maddirevula
- Department of Genetics, King Faisal Specialist Hospital and Research Center
- Amber Begtrup
- GeneDx, 207 Perry Parkway
- Aida Telegrafi
- GeneDx, 207 Perry Parkway
- Rolph Pfundt
- Department of Human Genetics, Radboud University Medical Center
- Rebecca Schüle
- Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen
- Brian Ciruna
- Program in Developmental & Stem Cell Biology, The Hospital for Sick Children, Department of Molecular Genetics, The University of Toronto
- Carine Bonnard
- Institute of Medical Biology, A*STAR, Biopolis
- Mahmoud A. Pouladi
- Translational Laboratory in Genetic Medicine, Agency for Science, Technology, and Research, Singapore (A*STAR), 8A Biomedical Grove, Immunos, Level 5
- James C. Stewart
- Institute of Molecular and Cell Biology, A*STAR, Biopolis
- Adam Claridge-Chang
- Institute of Molecular and Cell Biology, A*STAR, Biopolis
- Dirk J. Lefeber
- Department of Neurology, Donders Center for Brain, Cognition, and Behavior
- Fowzan S. Alkuraya
- Department of Genetics, King Faisal Specialist Hospital and Research Center
- Ajay S. Mathuru
- Yale-NUS College, 12 College Avenue West, Biopolis
- Byrappa Venkatesh
- National University of Singapore, Department of Paediatrics, Yong Loo Lin School of Medicine, Biopolis
- Joseph J. Barycki
- Department of Molecular and Structural Biochemistry North Carolina State University
- Melanie A. Simpson
- Department of Molecular and Structural Biochemistry North Carolina State University
- Saumya S. Jamuar
- Genetics Service, Department of Paediatrics, KK Women’s and Children’s Hospital
- Ludger Schöls
- Department of Neurology and Hertie-Institute for Clinical Brain Research, University of Tübingen
- Bruno Reversade
- Institute of Medical Biology, A*STAR, Biopolis
- DOI
- https://doi.org/10.1038/s41467-020-14360-7
- Journal volume & issue
-
Vol. 11,
no. 1
pp. 1 – 16
Abstract
UDP-glucuronic acid is a component of the extracellular matrix. Here, the authors report biallelic variants in the gene encoding UDP-Glucose 6-Dehydrogenase (UGDH) in individuals affected by developmental epileptic encephalopathies that impair UGDH stability, oligomerization, or enzymatic activity in vitro.
