ArticleMolecular genetics & genomic medicine2021
Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.
Article in Molecular genetics & genomic medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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10 citing papers in PubMed, 11 citations in OpenAlex.
- Tuberous sclerosis complex.Nature reviews. Disease primers · 2026Review
- Comparison of echocardiography and surgical pathology in pediatric cardiac tumor with follow-up: a single-center retrospective study.BMC cardiovascular disorders · 2026Article
- Prenatal ultrasound diagnosis of fetal cardiac rhabdomyoma and analysis of clinical outcomes.Quantitative imaging in medicine and surgery · 2026Article
- Fetal cardiac masses.Pediatric radiology · 2025Review
- Identify the origin of de novo variants in TSC patients by ddPCR.Acta epileptologica · 2025Article
- Whole Exome Sequencing Reveals Novel Genetic Variants Associated with Atrial Septal Defect in a Tibetan Patient Cohort.Pharmacogenomics and personalized medicine · 2025Article
- Diagnosis of tuberous sclerosis in the prenatal period: a retrospective study of 240 cases and review of the literature.European journal of human genetics : EJHG · 2024Review
- The Impact of Chromosomal Mosaicisms on Prenatal Diagnosis and Genetic Counseling-A Narrative Review.Journal of personalized medicine · 2024Review
- Review
- Detection of TSC1/TSC2 mosaic variants in patients with cardiac rhabdomyoma and tuberous sclerosis complex by hybrid-capture next-generation sequencing.Molecular genetics & genomic medicine · 2021Article
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Authors and funding
10 authors at 3 institutions in 2 countries.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundFetal cardiac rhabdomyoma (CR) is strongly associated with tuberous sclerosis complex (TSC), which is caused by variants in TSC1 and TSC2. However, in 10%-15% of patients with clinically confirmed TSC, no TSC1/TSC2 variants are identified by panel sequencing or multiplex ligation-dependent probe amplification (MLPA).
methodsWe analyzed eight fetuses with CR and their families. No TSC1/TSC2 variants had previously been identified for six of these fetuses, and we suspected the other two families of gonadal mosaicism. We performed next-generation sequencing (NGS) using CR tissue, umbilical cord tissue, and parental blood. All positive results, involving two paternal semen, were verified by droplet digital polymerase chain reaction (ddPCR).
resultsFour fetuses carried low-level mosaic variants (0.05%-14.89%), and two only exhibited somatic mosaic variants in the CR tissue (15.76% and 37.69%). Two fathers had gonadal mosaicism (9.07% and 4.86%). We identified nine pathogenic variants in eight fetuses, including one fetus with a second-hit variant.
conclusionThe fetuses assessed in this study carried low-level and somatic mosaic variants, and CR tissue from one fetus exhibited a second-hit variant. Heterozygous gonadal variants can exist in patients with low-level mosaicism. Combining NGS with ddPCR improves the accuracy of prenatal TSC diagnosis.
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