Article
Rare variants in FBN1 and FBN2 are associated with severe adolescent idiopathic scoliosis.
Human molecular genetics - 1 Oct 2014
Buchan Jillian G, Alvarado David M, Haller Gabe E, Cruchaga Carlos, Harms Matthew B, Zhang Tianxiao, Willing Marcia C, Grange Dorothy K, Braverman Alan C, Miller Nancy H, Morcuende Jose A, Tang Nelson Leung-Sang, Lam Tsz-Ping, Ng Bobby Kin-Wah, Cheng Jack Chun-Yiu, Dobbs Matthew B, Gurnett Christina A
Abstract excerpt
Adolescent idiopathic scoliosis (AIS) causes spinal deformity in 3% of children. Despite a strong genetic basis, few genes have been associated with AIS and the pathogenesis remains poorly understood. In a genome-wide rare variant burden analysis using exome sequence data, we identified fibrillin-1 (FBN1) as the most significantly associated gene with AIS. Based on these results, FBN1 and a related gene,...
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