Genetic aspects of adolescent idiopathic scoliosis in a family with multiple affected members: a research article
1 Universidade Federal de São Paulo. Rua Borges Lagoa 783, 5th floor - Vila Clementino - Sao Paulo ZIP 04038-032, Brazil
2 Universidade de São Paulo, Rua do Matao, 277 Sala 211 - Cidade Universitaria - Butanta - Sao Paulo - ZIP 05508-090, Brazil
Scoliosis 2010, 5:7 doi:10.1186/1748-7161-5-7Published: 7 April 2010
The 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.
Evaluation 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.
Locating a chromosome region linked to adolescent idiopathic scoliosis was not possible in the family studied.
While 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.