10/31/2023 0 Comments Fosters ze sanger![]() ![]() ST and SK were supported in part by the 2011 Research Chair Grants issued by the National Science and Technology Development Agency (NSTDA) and the Thailand Research Fund (RSA5480026). PC is a recipient of Royal Golden Jubilee Ph.D. This is an open-access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited.įunding: This study was funded through Ratchadapiseksomphot Endowment Fund of Chulalongkorn University (RES560530177-HR) awarded to CS, VS and KS and through the Thailand Research Fund (RTA5680003, RSA5480022). ![]() Received: DecemAccepted: Published: June 20, 2014Ĭopyright: © 2014 Chaiyasap et al. PLoS ONE 9(6):Įditor: Esteban Ballestar, Bellvitge Biomedical Research Institute (IDIBELL), Spain It also emphasizes the limitation of the current NGS technology in identifying causative genes for discordant phenotypes in monozygotic twins.Ĭitation: Chaiyasap P, Kulawonganunchai S, Srichomthong C, Tongsima S, Suphapeetiporn K, Shotelersuk V (2014) Whole Genome and Exome Sequencing of Monozygotic Twins with Trisomy 21, Discordant for a Congenital Heart Defect and Epilepsy. The fact that no discordant DNA variants were found suggests that sequence differences of DNA from leukocytes of monozygotic twins might be extremely rare. However, of the 15 variants chosen for validation with conventional Sanger sequencing, these candidate variants showed no differences in both twins. The post-analyses of the sequencing data revealed 21 putative discordant exonic variants between the twins from either genome or exome data. Thus, next generation sequencing (NGS) technologies were applied to sequence both whole genome and exome of their leukocytes. We hypothesized that some genetic differences from post-twinning mutations caused the discordant phenotypes. Twin-zygosity was confirmed by microsatellite genotyping. Here, we identified a pair of monozygotic twins with trisomy 21 but discordant for a ventricular septal defect and epilepsy. Interaction of genes on chromosome 21 or their gene products with certain alleles of genes on other chromosomes could contribute to CHD. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Congenital heart defects (CHD) occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart.
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