AI Article Synopsis
- * A study involving whole-exome sequencing of 11 Taiwanese patients with severe AIS identified over 200 potential rare genetic variants, but most were unique to single individuals.
- * Key genes linked to AIS were pinpointed, with one pathogenic variant shared among 35% of patients, indicating these genes play critical roles in the condition's development.
Article 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 , , and 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 was shared by over 35% of the patients. These results highlighted , , and as the most likely susceptibility genes for severe AIS.
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| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC9865588 | PMC |
| http://dx.doi.org/10.3390/jpm13010032 | DOI Listing |
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