ArticlePloS one2014
Whole genome and exome sequencing of monozygotic twins with trisomy 21, discordant for a congenital heart defect and epilepsy.
Article in PloS one, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 29 citations in OpenAlex.
- Aberrant tissue mechanics and mechanotransduction during heart development in down syndrome.Journal of biomechanics · 2026Article
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- Monozygotic twins discordant for homologous Robertsonian translocation trisomy 21 of 46, XX, + 21, der (21;21) (q10; q10) in a twin-to-twin transfusion syndrome, case report.BMC pregnancy and childbirth · 2021Review
- The Needle in the Haystack-Searching for Genetic and Epigenetic Differences in Monozygotic Twins Discordant for Tetralogy of Fallot.Journal of cardiovascular development and disease · 2020Article
- Phenotypic differences and similarities of monozygotic twins with maturity-onset diabetes of the young type 5.Journal of diabetes investigation · 2019Article
- Two cases of atypical twinning: Phenotypically discordant monozygotic and conjoined twins.Clinical case reports · 2019Article
- Pervasive Inter-Individual Variation in Allele-Specific Expression in Monozygotic Twins.Frontiers in genetics · 2019Article
- Value of DNA methylation in predicting curve progression in patients with adolescent idiopathic scoliosis.EBioMedicine · 2018Article
- Nimbus: a design-driven analyses suite for amplicon-based NGS data.Bioinformatics (Oxford, England) · 2018Article
- Copy Number Variants and Exome Sequencing Analysis in Six Pairs of Chinese Monozygotic Twins Discordant for Congenital Heart Disease.Twin research and human genetics : the official journal of the International Society for Twin Studies · 2017Article
- Failure to Identify Somatic Mutations in Monozygotic Twins Discordant for Schizophrenia by Whole Exome Sequencing.Chinese medical journal · 2016Article
- Developments in our understanding of the genetic basis of birth defects.Birth defects research. Part A, Clinical and molecular teratology · 2015Review
- Genetic mosaics and the germ line lineage.Genes · 2015Review
Corrections and comments
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Authors and funding
6 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Congenital heart defects (CHD) occur in 40% of patients with trisomy 21, while the other 60% have a structurally normal heart. This suggests that the increased dosage of genes on chromosome 21 is a risk factor for abnormal heart development. Interaction of genes on chromosome 21 or their gene products with certain alleles of genes on other chromosomes could contribute to CHD. Here, we identified a pair of monozygotic twins with trisomy 21 but discordant for a ventricular septal defect and epilepsy. Twin-zygosity was confirmed by microsatellite genotyping. We hypothesized that some genetic differences from post-twinning mutations caused the discordant phenotypes. Thus, next generation sequencing (NGS) technologies were applied to sequence both whole genome and exome of their leukocytes. The post-analyses of the sequencing data revealed 21 putative discordant exonic variants between the twins from either genome or exome data. However, of the 15 variants chosen for validation with conventional Sanger sequencing, these candidate variants showed no differences in both twins. The fact that no discordant DNA variants were found suggests that sequence differences of DNA from leukocytes of monozygotic twins might be extremely rare. It also emphasizes the limitation of the current NGS technology in identifying causative genes for discordant phenotypes in monozygotic twins.
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