Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1
Authors
Dominic Lenz1, Desirée E C Smith2, Ellen Crushell3, Ralf A Husain4, Gajja S Salomons2, Bader Alhaddad5, Jonathan A Bernstein6,7, Alyssa Bianzano1, Saskia Biskup8,9, Heiko Brennenstuhl1, Dominique Caldari10, Nicola Dikow11, Tobias B Haack12,13, Andrea Hanson-Kahn14,15, Inga Harting16, Denise Horn17, Joanne Hughes3, Maya Huijberts18, Bertrand Isidor19,20, Simone Kathemann21, Robert Kopajtich5,22, Urania Kotzaeridou1, Sébastien Küry19,20, Elke Lainka21, Lucia Laugwitz12,23, James R Lupski24,25,26, Jennifer E Posey24, Claire Reynolds3, Jill A Rosenfeld24,27, Julian Schröter1, Fleur Vansenne28, Matias Wagner5,22,29, Claudia Weiß30, Bruce H R Wolffenbuttel18, Saskia B Wortmann5,22,31, Stefan Kölker1, Georg F Hoffmann1, Holger Prokisch5,22, Marisa I Mendes2,Christian Staufner32.
- Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany.
- Metabolic Unit, Department of Clinical Chemistry, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam Neuroscience, Amsterdam Gastroenterology & Metabolism, Amsterdam, The Netherlands.
- National Centre for Inherited Metabolic Disorders, Children’s Health Ireland at Temple Street and Crumlin, Dublin, Ireland.
- Centre for Inborn Metabolic Disorders, Department of Neuropediatrics, Jena University Hospital, Jena, Germany.
- Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, Munich, Germany.
- Department of Pediatrics, Stanford School of Medicine, Stanford, CA, USA.
- Center for Undiagnosed Diseases, Stanford University, Stanford, CA, USA.
- CeGaT GmbH, Tübingen, Germany.
- Praxis für Humangenetik Tübingen, Tübingen, Germany.
- Service de pédiatrie, CHU Nantes, Nantes, France.
- Institute of Human Genetics, Heidelberg University, Heidelberg, Germany.
- Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.
- Centre for Rare Diseases, University of Tübingen, Tübingen, Germany.
- Department of Genetics, Stanford University School of Medicine, Palo Alto, CA, USA.
- Lucile Packard Children’s Hospital, Department of Pediatrics, Division of Medical Genetics, Palo Alto, CA, USA.
- Department of Neuroradiology, University Hospital Heidelberg, Heidelberg, Germany.
- Institute of Medical and Human Genetics, Charité-Universitätsmedizin Berlin, Berlin, Germany.
- Department of Endocrinology, University of Groningen, University Medical Center Groningen, Groningen, The Netherlands.
- Service de Génétique Médicale, CHU Nantes, Nantes, France.
- INSERM, CNRS, UNIV Nantes, l’institut du thorax, Nantes, France.
- Children’s Hospital, Department of Pediatric Gastroenterology, Hepatology, and Transplant Medicine, University Duisburg-Essen, Essen, Germany.
- Institute of Human Genetics, Helmholtz Zentrum München, Neuherberg, Germany.
- Department of Neuropediatrics, Developmental Neurology and Social Pediatrics, University of Tübingen, Tübingen, Germany.
- Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.
- Texas Children’s Hospital, Houston, TX, USA.
- Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX, USA.
- Baylor Genetics Laboratories, Houston, TX, USA.
- Department of Clinical Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.
- Institute of Neurogenomics, Helmholtz Zentrum München, Neuherberg, Germany.
- Department of Neuropediatrics, Sozialpädiatrisches Zentrum (SPZ), Center for Chronically Sick Children, Charité-Universitätsmedizin Berlin, Germany, corporate member of Freie Universität Berlin, Humboldt-Universität zu Berlin, and Berlin Institute of Health, Berlin, Germany.
- Department of Pediatrics, Salzburger Landeskliniken and Paracelsus Medical University, Salzburg, Austria.
- Division of Neuropediatrics and Pediatric Metabolic Medicine, Center for Pediatric and Adolescent Medicine, University Hospital Heidelberg, Heidelberg, Germany. Christian.Staufner@med.uni-heidelberg.de.