Abstract：
Adolescent idiopathic scoliosis (AIS) is a three-dimensional spinal curvature deformity that appears in the adolescent period. In this study, we performed whole-exome sequencing on 11 unrelated Taiwanese patients with a Cobb\'s angle greater than 40 degrees. Our results identified more than 200 potential pathogenic rare variants, however, most of which were carried only by one individual. By in silico pathogenicity annotation studies, we found that TTN, CLCN1, and SOX8 were the most important genes, as multiple pathogenic variants were within these genes. Furthermore, biological functional annotation indicated critical roles of these AIS candidate genes in the skeletal muscle. Importantly, a pathogenic variant on SOX8 was shared by over 35% of the patients. These results highlighted TTN, CLCN1, and SOX8 as the most likely susceptibility genes for severe AIS.
摘要：
青少年特发性脊柱侧凸（AIS）是一种出现在青少年时期的三维脊柱弯曲畸形。在这项研究中,我们对11例Cobb角度大于40度的无关台湾患者进行了全外显子组测序.我们的结果确定了200多种潜在的致病性罕见变异，然而,其中大部分只由一个人携带。通过计算机致病性注释研究，我们发现TTN,CLCN1和SOX8是最重要的基因,因为这些基因中有多种致病变异。此外，生物学功能注释表明这些AIS候选基因在骨骼肌中的关键作用。重要的是,超过35%的患者共享SOX8的致病变异.这些结果突出了TTN，CLCN1和SOX8是最可能的严重AIS易感基因。
