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16q12.2q21 deletion: A newly recognized cause of dystonia related to GNAO1 haploinsufficiency

  • Author Footnotes
    1 These authors contributed equally to the work.
    Amaia Lasa-Aranzasti
    Footnotes
    1 These authors contributed equally to the work.
    Affiliations
    Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
    Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain
    Medicine Department, Universitat Autònoma de Barcelona, Barcelona, Spain
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  • Author Footnotes
    1 These authors contributed equally to the work.
    Ana Cazurro-Gutiérrez
    Footnotes
    1 These authors contributed equally to the work.
    Affiliations
    Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain
    Universitat Autònoma de Barcelona, Barcelona, Spain
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  • Agustín Bescós
    Affiliations
    Pediatric Neuromodulation Unit, Hospital Vall d’Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain
    Department of Neurosurgery, Vall d'Hebron University Hospital, Barcelona, Spain
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  • Victoria González
    Affiliations
    Pediatric Neuromodulation Unit, Hospital Vall d’Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain
    Department of Neurology, Department of Neurology, Vall Hebron University Hospital Barcelona, Spain
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  • Lourdes Ispierto
    Affiliations
    Pediatric Neuromodulation Unit, Hospital Vall d’Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain
    Neurodegenerative Diseases Unit, Neurology Service and Neurosciences Department, University Hospital Germans Trias i Pujol, Barcelona, Spain
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  • Manel Tardáguila
    Affiliations
    Pediatric Neuromodulation Unit, Hospital Vall d’Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain
    Department of Neurological Surgery, University Hospital Germans Trias i Pujol, Barcelona, Spain
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  • Irene Valenzuela
    Affiliations
    Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
    Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain
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  • Alberto Plaja
    Affiliations
    Department of Clinical and Molecular Genetics, Vall d'Hebron University Hospital, Barcelona, Spain
    Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain
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  • Antonio Moreno-Galdó
    Affiliations
    Department of Pediatrics, Universitat Autónoma de Barcelona, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
    CIBER of Rare diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain
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  • Alfons Macaya-Ruiz
    Affiliations
    Department of Pediatrics, Universitat Autónoma de Barcelona, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain
    Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain
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  • Belen Pérez-Dueñas
    Correspondence
    Corresponding author.Vall d’Hebron Research Institute, Pg Vall d’Hebron 119, Barcelona.
    Affiliations
    Pediatric Neurology Research Group, Vall d'Hebron Research Institute (VHIR), Autonomous University of Barcelona, Barcelona, Spain
    Pediatric Neuromodulation Unit, Hospital Vall d’Hebrón and Hospital Germans Trias I Pujol, Barcelona, Spain
    CIBER of Rare diseases (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029, Madrid, Spain
    Search for articles by this author
  • Author Footnotes
    1 These authors contributed equally to the work.
Published:September 06, 2022DOI:https://doi.org/10.1016/j.parkreldis.2022.08.032
      The thirteen-year-old girl was born to healthy non-consanguineous parents, after normal pregnancy and delivery. The patient had a history of hypotonia during the first months of life, with torticollis and plagiocephaly. She had a global motor delay and delayed speech and language development. On examination, the patient showed macrocephaly, short stature, synophrys, long palpebral fissures, thin upper lip vermilion, low-set ears, short neck, cubitus valgus, pes planus and valgus and brachydactyly. The patient's full-scale IQ (WISC V test) at 9 years of age was 55. A prominent behavioral disorder featured abrupt mood swings, from being overly friendly to bouts of oppositional disorder and temper tantrums, in addition to perseverative and obsessive behavior and anxiety symptoms.

      keywords

      Abbreviations:

      gnao1 (gnao1), dystonia (dystonia), deep brain stimulation (DBS), pallidal stimulation (GPi), children (children)
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