Biallelic MADD variants cause a phenotypic spectrum ranging from developmental delay to a multisystem disorder
Authors
Pauline E Schneeberger 1 , Fanny Kortüm 1 , Georg Christoph Korenke 2 , Malik Alawi 3 , René Santer 4 , Mathias Woidy 4 , Daniela Buhas 5 6 , Stephanie Fox 5 6 , Jane Juusola 7 , Majid Alfadhel 8 9 10 , Bryn D Webb 11 12 13 , Emanuele G Coci 14 15 , Rami Abou Jamra 16 , Manuela Siekmeyer 17 , Saskia Biskup 18 , Corina Heller 18 , Esther M Maier 19 , Poupak Javaher-Haghighi 20 , Maria F Bedeschi 21 , Paola F Ajmone 22 , Maria Iascone 23 , Hilde Peeters 24 , Katleen Ballon 25 , Jaak Jaeken 26 , Aroa Rodríguez Alonso 27 , María Palomares-Bralo 28 , Fernando Santos-Simarro 28 , Marije E C Meuwissen 29 , Diane Beysen 30 , R Frank Kooy 31 , Henry Houlden 32 , David Murphy 32 , Mohammad Doosti 33 , Ehsan G Karimiani 33 34 , Majid Mojarrad 35 36 37 , Reza Maroofian 32 , Lenka Noskova 38 , Stanislav Kmoch 38 , Tomas Honzik 39 , Heidi Cope 40 , Amarilis Sanchez-Valle 41 , Undiagnosed Diseases Network; Bruce D Gelb 11 12 13 , Ingo Kurth 42 43 , Maja Hempel 1 , Kerstin Kutsche 1
- Institute of Human Genetics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
- Klinik für Neuropädiatrie und angeborene Stoffwechselerkrankungen, Klinikum Oldenburg, Oldenburg, Germany.
- Bioinformatics Core Unit, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
- Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.
- Division of Medical Genetics, Department of Specialized Medicine, McGill University Health Centre, Montreal, Canada.
- Human Genetics Department, McGill University, Montreal, Canada.
- GeneDx, Gaithersburg, USA.
- Division of Genetics, Department of Pediatrics, King Abdullah specialized Children’s Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
- Medical Genomics Research Department, King Abdullah International Medical Research Center (KAIMRC), Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
- King Saud Bin Abdulaziz University for Health Sciences, Ministry of National Guard-Health Affairs (MNGHA), Riyadh, Saudi Arabia.
- Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, USA.
- Department of Pediatrics, Icahn School of Medicine at Mount Sinai, New York, USA.
- Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, USA.
- Department for Neuropediatrics, University Children’s Hospital, Ruhr University Bochum, Bochum, Germany.
- Department of Pediatrics, Prignitz Hospital, Brandenburg Medical School, Germany.
- Institute of Human Genetics, University Medical Center Leipzig, Leipzig, Germany.
- Universitätsklinikum Leipzig – AöR, University of Leipzig, Hospital for Children and Adolescents, Leipzig, Germany.
- CeGaT GmbH and Praxis für Humangenetik Tübingen, Tübingen, Germany.
- Dr. von Hauner Children’s Hospital, University of Munich, Munich, Germany.
- Medicover Humangenetik Hannover, Hanover, Germany.
- Medical Genetic Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy.
- Child and Adolescent Neuropsychiatric Unit, Fondazione IRCCS Cà Granda Ospedale Maggiore Policlinico, Milan, Italy.
- Laboratorio di Genetica Medica, ASST Papa Giovanni XXIII, Bergamo, Italy.
- Center for Human Genetics, KU Leuven, Leuven, Belgium.
- Centre for Developmental Disabilities, Department of Development and Regeneration, KU Leuven, Leuven, Belgium.
- Center for Metabolic Diseases, KU Leuven, Leuven, Belgium.
- Unidad de Patología Compleja, Servicio de Pediatría, Hospital Universitario La Paz, Madrid, Spain.
- Instituto de Genética Médica y Molecular (INGEMM), Hospital Universitario La Paz, IdiPAZ, CIBERER, ISCIII, Madrid, Spain.
- Center of Medical Genetics, University Hospital Antwerp, Antwerp, Belgium.
- Department of Pediatric Neurology, University Hospital Antwerp, Antwerp, Belgium.
- Department of Medical Genetics, University of Antwerp, Antwerp, Belgium.
- Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology and The National Hospital for Neurology and Neurosurgery, London, UK.
- Next Generation Genetic Polyclinic, Mashhad, Iran.
- Genetics Research Centre, Molecular and Clinical Sciences Institute, St. George’s, University, London, UK.
- Department of Medical Genetics, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad, Iran.
- Medical Genetics Research Center, Mashhad University of Medical Sciences, Mashhad, Iran.
- Genetic Center of Khorasan Razavi, Mashhad, Iran.
- Research Unit for Rare Diseases, Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University, Prague, Czech Republic.
- Department of Pediatrics and Adolescent Medicine, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
- Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, North Carolina, USA.
- Division of Genetics and Metabolism, College of Medicine, University of South Florida, Tampa, Florida, USA.
- Institute of Human Genetics, Medical Faculty, RWTH Aachen University, Aachen, Germany.
- Institute of Human Genetics, Jena University Hospital, Jena, Germany.