• PMID: 28606200
• Gene Name: TBCD
• Condition: Cryptorchidism
• Association: Associated
• Population size: 2
• Population details: Monozgotic twins (1 control, I cwith cryptorchidism)
• Age: 11-month-old
• Sex: Male
• Infertility type: Male infertility
• Associated genes: MeDIP-Seq

Exomic and Epigenomic Analyses in a Pair of Monozygotic Twins Discordant for Cryptorchidism

Lu P, Wang P, Li L, Xu C, Liu JC, Guo X, He D, Huang H, Cheng Z.

Cryptorchidism represents one of the most common human congenital anomalies. In most cases, its etiology remains unclear and seems to be multifactorial. In the present study, a pair of monozygotic twins discordant for cryptorchidism was identified. Twin zygosity was confirmed by microsatellite genotyping. Whole exome sequencing and methylated DNA immunoprecipitation sequencing (MeDIP-Seq) of DNA extract from leucocytes were performed to, respectively, evaluate their exomes and epigenomes. No differences in exome sequencing data were found between the twins after validation. MeDIP-Seq analysis detected 5,410 differentially hypermethylated genes and 2,383 differentially hypomethylated genes. Bioinformatic analysis showed that these genes belonged to several biological processes and signaling pathways, including regulation of actin cytoskeleton, which has been previously implicated in the etiology of cryptorchidism. The findings of the present study suggest that non-genetic factors might contribute to the pathogenesis of cryptorchidism. FAU - Lu, Peng AU - Lu P AD - Department of Urology,Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders,Chongqing,PR China. FAU - Wang, Pengyun AU - Wang P AD - Department of Clinical Laboratory,Liyuan Hospital,Huazhong University of Science and Technology,Wuhan,PR China. FAU - Li, Lianbing AU - Li L AD - Key Laboratory of Birth Defects and Reproductive Health of the National Health and Family Planning Commission (Chongqing Population and Family Planning Science and Technology Research Institute),Chongqing,PR China. FAU - Xu, Chengqi AU - Xu C AD - College of Life Science and Technology and Center for Human Genome Research,Key Laboratory of Molecular Biophysics of the Ministry of Education,Huazhong University of Science and Technology,Wuhan,PR China. FAU - Liu, Jing Crystal AU - Liu JC AD - School of Basic Medical Sciences,Chongqing Medical University,Chongqing,PR China. FAU - Guo, Xiangqian AU - Guo X AD - Department of Preventive Medicine,Medical School,Henan University,Kaifeng,PR China. FAU - He, Dawei AU - He D AD - Department of Urology,Children's Hospital of Chongqing Medical University,Ministry of Education Key Laboratory of Child Development and Disorders,Chongqing,PR China. FAU - Huang, Huizhe AU - Huang H AD - School of Basic Medical Sciences,Chongqing Medical University,Chongqing,PR China.