Abstract
BackgroundThe etiology of idiopathic scoliosis remains unknown and different factors have been suggested as causal. Hereditary factors can also determine the etiology of the disease; however, the pattern of inheritance remains unknown. Autosomal dominant, X-linked and multifactorial patterns of inheritances have been reported. Other studies have suggested possible chromosome regions related to the etiology of idiopathic scoliosis. We report the genetic aspects of and investigate chromosome regions for adolescent idiopathic scoliosis in a Brazilian family.MethodsEvaluation of 57 family members, distributed over 4 generations of a Brazilian family, with 9 carriers of adolescent idiopathic scoliosis. The proband presented a scoliotic curve of 75 degrees, as determined by the Cobb method. Genomic DNA from family members was genotyped.ResultsLocating a chromosome region linked to adolescent idiopathic scoliosis was not possible in the family studied.ConclusionWhile it was not possible to determine a chromosome region responsible for adolescent idiopathic scoliosis by investigation of genetic linkage using microsatellites markers during analysis of four generations of a Brazilian family with multiple affected members, analysis including other types of genomic variations, like single nucleotide polymorphisms (SNPs) could contribute to the continuity of this study.
Highlights
The etiology of idiopathic scoliosis remains unknown and different factors have been suggested as causal
Evaluation of familial history of the individuals studied revealed an autosomal dominant pattern of transmission (Figures 1 and 2), with 9 affected members, 12 unaffected members and 36 members showing some characteristics of the disease, classified as suggestive of idiopathic scoliosis
In the family analyzed in this study, it was not possible to determine a chromosome region responsible for idiopathic scoliosis by investigation of genetic linkage
Summary
The etiology of idiopathic scoliosis remains unknown and different factors have been suggested as causal. Idiopathic scoliosis is a structural lateral curvature of the spine with a rotatory component deviation in an otherwise healthy individual. These individuals present no known neurological, muscular disorders or other diseases [1] Radiography exam shows no vertebral alterations, while present with curves of more than 10°, as determined by the Cobb method [1]. Lonstein (1994) reported that the prevalence of idiopathic scoliosis in radiographic studies in school populations varied between 0.3 and 15.3%; considering only curves greater than 10°, the rates decreased to values between 1.5 and 3%. The pathogenesis of idiopathic scoliosis remains unknown and different factors have been suggested as causal. The following should be highlighted: deviation from the standard growth pattern, neuromuscular or conjunctive tissue alterations, asymmetric growth of the limbs and trunk, alterations in the sagittal configuration of the spine; and environmental factors [25]
Sign-in/Register to view highlights & summary Sign-in/Register to access full text options 
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
