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A novel synonymous KMT2B variant in a patient with dystonia causes aberrant splicing.
Grosz, Bianca R; Tisch, Stephen; Tchan, Michel C; Fung, Victor S C; Darveniza, Paul; Fellner, Avi; Kurian, Manju A; McLean, Alison; Tomlinson, Susan E; Smyth, Renee; Devery, Sophie; Wu, Kathy H C; Kennerson, Marina L; Kumar, Kishore R.
Affiliation
  • Grosz BR; Northcott Neuroscience Laboratory, ANZAC Research Institute, Concord, New South Wales, Australia.
  • Tisch S; Department of Neurology, St Vincent's Hospital, Darlinghurst, New South Wales, Australia.
  • Tchan MC; School of Medicine, University of New South Wales, Sydney, New South Wales, Australia.
  • Fung VSC; Clinical Genomics, St Vincent's Hospital, Darlinghurst, New South Wales, Australia.
  • Darveniza P; Department of Genetic Medicine, Westmead Hospital, Westmead, New South Wales, Australia.
  • Fellner A; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • Kurian MA; Sydney Medical School, Faculty of Medicine and Health, University of Sydney, Sydney, New South Wales, Australia.
  • McLean A; Movement Disorders Unit, Neurology Department, Westmead Hospital, Westmead, New South Wales, Australia.
  • Tomlinson SE; Department of Neurology, St Vincent's Hospital, Darlinghurst, New South Wales, Australia.
  • Smyth R; Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia.
  • Devery S; Raphael Recanati Genetics Institute, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.
  • Wu KHC; Department of Neurology, Rabin Medical Center, Beilinson Hospital, Petah Tikva, Israel.
  • Kennerson ML; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, London, UK.
  • Kumar KR; Clinical Genomics, St Vincent's Hospital, Darlinghurst, New South Wales, Australia.
Mol Genet Genomic Med ; 10(5): e1923, 2022 05.
Article in En | MEDLINE | ID: mdl-35293157
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone-Lysine N-Methyltransferase / Dystonic Disorders / Dystonia Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Child / Humans Language: En Journal: Mol Genet Genomic Med Year: 2022 Document type: Article Affiliation country: Australia
Fulltext
Add to My VHL
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PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Histone-Lysine N-Methyltransferase / Dystonic Disorders / Dystonia Type of study: Etiology_studies / Prognostic_studies Limits: Animals / Child / Humans Language: En Journal: Mol Genet Genomic Med Year: 2022 Document type: Article Affiliation country: Australia