TY - JOUR AB - Congenital scoliosis (CS) is a congenital disease resulting in abnormal vertebral development. Several studies have indicated that both genetic and environmental factors during pregnancy increase the risk of CS development. However, the exact mechanisms underlying CS pathogenesis remain unknown. To address this issue, both genetic (by whole‑exome sequencing) and epigenetic (by methylated DNA immunoprecipitation sequencing) maps from CS disease‑discordant monozygotic twins were generated in the present study. The differences in the presence of common and rare single nucleotide polymorphisms and in methylation patterns between the twins were investigated. The results indicated that rare mutations were more likely to underlie CS development compared with common mutations. Furthermore, differences in the allele‑specific methylation pattern in the supervillin (SVIL) gene between the twins were identified. It has been reported that SVIL exerts a number of functions associated with CS, indicating its role as a novel mechanism promoting CS pathogenesis. AD - Department of Orthopedic Surgery, Surgery Building, The People's Liberation Army General Hospital, Beijing 100000, P.R. China Department of Spine Surgery, Zhongshan Hospital Xiamen University, School of Medicine, Xiamen University, Xiamen, Fujian 361004, P.R. China Department of Orthopedics, Spine Surgery, Changzheng Hospital, Second Military Medical University, Shanghai 200003, P.R. China AU - Zhang,Zhifa AU - Chen,Yongjun AU - Wu,Yuezhou AU - Hao,Yongyu AU - Zhao,Xuelin AU - Wang,Xiangyu AU - Wang,Yan AU - Xi,Yanhai AU - Zhang,Xuesong AU - Zhang,Zhifa AU - Chen,Yongjun AU - Wu,Yuezhou AU - Hao,Yongyu AU - Zhao,Xuelin AU - Wang,Xiangyu AU - Wang,Yan AU - Xi,Yanhai AU - Zhang,Xuesong AU - Zhang,Zhifa AU - Chen,Yongjun AU - Wu,Yuezhou AU - Hao,Yongyu AU - Zhao,Xuelin AU - Wang,Xiangyu AU - Wang,Yan AU - Xi,Yanhai AU - Zhang,Xuesong DA - 2020/09/01 DO - 10.3892/mmr.2020.11273 EP - 2100 IS - 3 JO - Mol Med Rep KW - congenital scoliosis DNA methylation supervillin gene sequencing single nucleotide polymorphism PY - 2020 SN - 1791-2997 1791-3004 SP - 2093 ST - A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene T2 - Molecular Medicine Reports TI - A twin‑pair analysis indicates congenital scoliosis is associated with allele‑specific methylation in the SVIL gene UR - https://doi.org/10.3892/mmr.2020.11273 VL - 22 ER -