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Brown-Vialetto-Van Laere Syndrome, a Ponto-Bulbar Palsy with Deafness, Is Caused by Mutations in C20orf54 |
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| Authors: | Peter Green Yanick J. Crow Shelley Riphagen F. Lucy Raymond Eamonn Sheridan Dragana J. Josifova |
| Affiliation: | 1 Department of Medical and Molecular Genetics, Kings College, London, SE1 9RT, UK 2 Department of Clinical Genetics, Guy's Hospital, London SE1 9RT, UK 3 Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, CMFT, St Mary's Hospital, Manchester M13 9WL, UK 4 Institute of Neurology, MRC Centre for Neuromuscular Diseases at the Institute of Neurology, Queen Square, London WC1N 3BG, UK 5 Paediatric Intensive Care Unit, Evelina Children's' Hospital, St. Thomas' Hospital, London SE1 7EH, UK 6 Department of Paediatric Neurology, Evelina Children's' Hospital, St. Thomas' Hospital, London SE1 7EH, UK 7 Department of Medical Genetics, University of Cambridge, Cambridge Institute for Medical Research, Addenbrook's Hospital, Cambridge CB2 0XY, UK 8 Department of Paediatric Neurology, Leeds Teaching Hospitals HNS, The General Infirmary at Leeds, Leeds LS1 3EX, UK 9 Section of Genetics, Leeds Institute of Molecular Medicine, Welcome Trust Brenner Building, St James's University Hospital, Leeds LS9 7TF, UK |
| Abstract: | Brown-Vialetto-Van Laere syndrome is a rare neurological disorder with a variable age at onset and clinical course. The key features are progressive ponto-bulbar palsy and bilateral sensorineural deafness. A complex neurological phenotype with a mixed picture of upper and lower motor neuron involvement reminiscent of amyotrophic lateral sclerosis evolves with disease progression. We identified a candidate gene, C20orf54, by studying a consanguineous family with multiple affected individuals and subsequently demonstrated that mutations in this gene were the cause of disease in other, unrelated families. |
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