Journal article
Exploring the link between dystonia genes and idiopathic scoliosis
Journal of pediatric orthopaedics, Vol.33(6), pp.e65-e66
09/2013
DOI: 10.1097/BPO.0b013e31829aac15
PMID: 23812140
Abstract
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.
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.
No mutations were identified in any of the dystonia genes studied.
We found no genetic link between dystonia and AIS.
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.
Details
- Title: Subtitle
- Exploring the link between dystonia genes and idiopathic scoliosis
- Creators
- Pedro Gonzalez-Alegre - Department of Neurology, Roy J and Lucille Carver College of Medicine, The University of Iowa, Iowa City, IA 52242, USA. pedro-gonzalez-alegre@uiowa.eduValerie BuffardKai WangShady HenienJose A Morcuende
- Resource Type
- Journal article
- Publication Details
- Journal of pediatric orthopaedics, Vol.33(6), pp.e65-e66
- Publisher
- United States
- DOI
- 10.1097/BPO.0b013e31829aac15
- PMID
- 23812140
- ISSN
- 0271-6798
- eISSN
- 1539-2570
- Language
- English
- Date published
- 09/2013
- Academic Unit
- Stead Family Department of Pediatrics; Biostatistics; Orthopedics and Rehabilitation; Internal Medicine
- Record Identifier
- 9983997479702771
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