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  • Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1

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Rare disease
CASE REPORT
Intracranial calcifications and dystonia associated with a novel deletion of chromosome 8p11.2 encompassing SLC20A2 and THAP1
  1. Weiyi Mu1,
  2. Laura Tochen2,
  3. Caroline Bertsch3,
  4. Harvey S Singer4 and
  5. Kristin W Barañano4
  1. 1 Department of Genetic Medicine, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
  2. 2 Department of Neurology, Children’s National Health System, Washington, DC, USA
  3. 3 Division of Medical Genetics, University of Texas, Houston, Texas, USA
  4. 4 Departments of Neurology and Pediatrics, Johns Hopkins School of Medicine, Baltimore, Maryland, USA
  1. Correspondence to Weiyi Mu, wmu2{at}jhmi.edu

Abstract

Several genes located within the chromosome 8p11.21 region are associated with movement disorders including SLC20A2 and THAP1. SLC20A2 is one of four genes associated with primary familial brain calcification, a syndrome that also includes movement disorders, cognitive decline and psychiatric issues. THAP1 is associated with dystonia type 6, a dominantly inherited dystonia with variable expression. In addition, several reports in the French-Canadian population have described microdeletions within the 8p11.2 region presenting with dystonia-plus syndromes including brain calcifications. This case report describes a 12-year-old boy with brain calcifications and generalised dystonia associated with a deletion in the 8p11.2 region detected via single nucleotide polymorphism microarray. This report emphasises the importance of obtaining a microarray analysis in diagnosing movement disorders and suggests that this copy number variant may be an under-recognised cause of dystonia and brain calcifications.

  • genetics
  • genetic screening/counselling
  • neurology
  • movement disorders (other than Parkinsons)
  • neuro genetics

http://dx.doi.org/10.1136/bcr-2018-228782

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    Footnotes

    • Contributors WM, LT, CB, HSS and KWB: contributed to the conception of this work; the acquisition, analysis and interpretation of data; the drafting of this manuscript; approved the final version of this manuscript and agreed to be held accountable for all aspects of this work.

    • Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.

    • Competing interests None declared.

    • Provenance and peer review Not commissioned; externally peer reviewed.

    • Patient consent for publication Obtained.