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Journal of Pediatric Orthopaedics:
doi: 10.1097/BPO.0b013e31829aac15

Exploring the Link Between Dystonia Genes and Idiopathic Scoliosis

Gonzalez-Alegre, Pedro MD, PhD*; Buffard, Valerie BSc; Wang, Kai PhD; Henien, Shady MD; Morcuende, Jose A. MD, PhD

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Background: Adolescent idiopathic scoliosis (AIS) is characterized by a complex curvature of the spine of unknown etiology. Unknown genetic factors likely play a role in disease pathogenesis. Recent studies suggest that AIS could result from central nervous system dysfunction and be related to dystonia. On the basis of this information, we hypothesized that genes linked to dystonia contribute to the pathogenesis of AIS.

Methods: To test this hypothesis, we evaluated the potential association between sequence variants in candidate dystonia genes and AIS. We sequenced the coding region of 5 selected dystonia-causing genes in 24 subjects with AIS, followed by targeted confirmation in additional 89 patients and 73 controls.

Results: No mutations were identified in any of the dystonia genes studied.

Conclusions: We found no genetic link between dystonia and AIS.

Clinical Relevance: This investigation is a genetic evaluation of the association between dystonia and AIS. Despite the support in the literature for a pathogenic link between both the disorders, we have not identified any mutations in dystonia genes in patients with AIS.

© 2013 by Lippincott Williams & Wilkins

The Pediatric Orthopaedic Society of North America (POSNA)
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