MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia,Movement Disorders

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MED27, SLC6A7, and MPPE1 Variants in a Complex Neurodevelopmental Disorder with Severe Dystonia
Movement Disorders ( IF 8.6 ) Pub Date : 2022-07-25 , DOI: 10.1002/mds.29147
Kimberley M Reid ₁ , Robert Spaull _{1,

2} , Smrithi Salian ₃ , Katy Barwick ₁ , Esther Meyer ₁ , Juan Zhen ₄ , Hiromi Hirata ₅ , Diba Sheipouri ₆ , Hind Benkerroum ₃ , Kathleen M Gorman _{7,

8} , Apostolos Papandreou _{1,

2} , Michael A Simpson ₉ , Yoshinobu Hirano ₅ , Irene Farabella _{10,

11} , Maya Topf _{10,

12} , Detelina Grozeva _{13,

14} , Keren Carss ₁₅ , Martin Smith ₁₆ , Hardev Pall ₁₇ , Peter Lunt ₁₈ , Susanna De Gressi ₁₉ , Erik-Jan Kamsteeg ₂₀ , Tobias B Haack ₂₁ , Lucinda Carr ₂ , Rita Guerreiro ₂₂ , Jose Bras ₂₂ , Eamonn R Maher ₂₃ , Richard H Scott ₂₄ , Robert J Vandenberg ₆ , F Lucy Raymond ₁₄ , Wui K Chong _{25,

26} , Sniya Sudhakar _{25,

26} , Kshitij Mankad _{25,

26} , Maarten E Reith ₂₇ , Philippe M Campeau ₃ , Robert J Harvey _{28,

29} , Manju A Kurian _{1,

2}

Affiliation

Molecular Neurosciences, Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Department of Neurology, Great Ormond Street Hospital, London, United Kingdom.
Department of Pediatrics, CHU Sainte-Justine Research Center, University of Montreal, Montreal, Quebec, Canada.
Cell Therapy and Cell Engineering Facility, Memorial Sloan Kettering Cancer Center, New York, New York, USA.
Department of Chemistry and Biological Science, College of Science and Engineering, Aoyama Gakuin University, Sagamihara, Japan.
School of Medical Sciences, University of Sydney, Sydney, New South Wales, Australia.
Department of Neurology and Clinical Neurophysiology, Children's Health Ireland at Temple Street, Dublin, Ireland.
School of Medicine and Medical Sciences, University College Dublin, Dublin, Ireland.
Division of Genetics and Molecular Medicine, King's College London School of Medicine, London, United Kingdom.
Institute of Structural and Molecular Biology, Crystallography/Department of Biological Sciences, Birkbeck College, University of London, London, United Kingdom.
CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology (BIST), Barcelona, Spain.
Leibniz Institute for Virology (HPI) and Universitätsklinikum Hamburg Eppendorf (UKE), Centre for Structural Systems Biology (CSSB), Hamburg, Germany.
Department of Medical Genetics, Cambridge Institute for Medical Research, University of Cambridge, Cambridge, United Kingdom.
Centre for Trials Research, Neuadd Meirionnydd, Cardiff University, Cardiff, United Kingdom.
Wellcome Trust Sanger Institute, Cambridge, United Kingdom.
Department of Neurology, John Radcliffe Hospital, Oxford, United Kingdom.
Department of Neurology, Queen Elizabeth Hospital, Birmingham, United Kingdom.
Clinical Genetic Service, Gloucester Royal Hospital, Gloucester, United Kingdom.
Department of Paediatrics, Cheltenham General Hospital, Gloucestershire, United Kingdom.
Department of Human Genetics, Radboud University Medical Center, Nijmegen, Netherlands.
Institute of Medical Genetics and Applied Genomics, University of Tuebingen, Tuebingen, Germany.
Department of Neurodegenerative Science, Van Andel Institute, Grand Rapids, Michigan, USA.
Department of Medical Genetics, University of Cambridge, Cambridge, United Kingdom.
Department of Clinical Genetics, Great Ormond Street Hospital, London, United Kingdom.
Department of Radiology, Great Ormond Street Hospital, London, United Kingdom.
Developmental Neurosciences Department, UCL Great Ormond Street Institute of Child Health, London, United Kingdom.
Department of Psychiatry, New York University School of Medicine, New York, New York, USA.
School of Health and Behavioural Sciences, University of the Sunshine Coast, Sippy Downs, Queensland, Australia.
Sunshine Coast Health Institute, Birtinya, Queensland, Australia.

Despite advances in next generation sequencing technologies, the identification of variants of uncertain significance (VUS) can often hinder definitive diagnosis in patients with complex neurodevelopmental disorders.

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