Adolescent idiopathic scoliosis is a genetic disorder of unknown etiology. 
Scoliosis is a clinical feature of inherited connective-tissue disorders 
including Marfan syndrome. Mutations within the gene of FBN1 (fibrillin 15), a 
component of the extracellular matrix, are now linked to Marfan syndrome and 
similar clinical phenotypes. This study investigated the potential association 
of structural genes encoding for extracellular matrix components of FBN1, 
elastin, and one of the polypeptides of type-I collagen (COL1A2) with familial 
adolescent idiopathic scoliosis. Eleven pedigrees, including 96 individuals, 
were identified in which adolescent idiopathic scoliosis segregated in an 
apparent autosomal dominant pattern. Fifty-two individuals were determined to be 
affected with scoliosis. Genomic DNA was analyzed by genetic linkage utilizing 
four intragenic markers for the structural genes of FBN1, elastin, and COL1A2. 
Collectively, our results exclude the structural genes of FBN1, elastin, and 
COL1A2 as candidate genes within these families. However, when viewed 
individually, specific markers cannot be excluded within all of the families. 
This information complements previously reported data that fibrillin production 
and matrix incorporation from scoliotic fibroblasts in vitro are normal in more 
than 80% of patients studied.