ArticleHuman genetics2019
Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.
Article in Human genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06722313 (Optimized PGT-M Strategy Using Gametes or Arrested Embryos From Patients With No Proband), which is not on this map. Cited by 12 papers.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Optimized PGT-M Strategy Using Gametes or Arrested Embryos From Patients With No Proband
Who cites it
12 citing papers in PubMed, 16 citations in OpenAlex.
- Detection of gonosomal mosaicism by ultra-deep sequencing and droplet digital PCR in patients with Emery-Dreifuss muscular dystrophy.Molecular genetics & genomic medicine · 2023Article
- Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.Human genetics · 2023Article
- Classification of NF1 microdeletions and its importance for establishing genotype/phenotype correlations in patients with NF1 microdeletions.Human genetics · 2021Review
- AtypicalGenes · 2021Review
- Genotype-phenotype correlation in neurofibromatosis type-1: NF1 whole gene deletions lead to high tumor-burden and increased tumor-growth.PLoS genetics · 2021Article
- Next-generation sequence-based preimplantation genetic testing for monogenic disease resulting from maternal mosaicism.Molecular genetics & genomic medicine · 2021Article
- Genotype-Phenotype Associations in Patients With Type-1, Type-2, and AtypicalFrontiers in genetics · 2021Article
- Epigenomic, genomic, and transcriptomic landscape of schwannomatosis.Acta neuropathologica · 2021Article
- Clinical characterization of children and adolescents with NF1 microdeletions.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Article
- Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.Current protocols in human genetics · 2020Article
- Identification and characterization of NF1 and non-NF1 congenital pseudarthrosis of the tibia based on germline NF1 variants: genetic and clinical analysis of 75 patients.Orphanet journal of rare diseases · 2019Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 3 countries.
Funding
Abstract
Different types of large NF1 deletion are distinguishable by breakpoint location and potentially also by the frequency of mosaicism with normal cells lacking the deletion. However, low-grade mosaicism with fewer than 10% normal cells has not yet been excluded for all NF1 deletion types since it is impossible to assess by the standard techniques used to identify such deletions, including MLPA and array analysis. Here, we used ultra-deep amplicon sequencing to investigate the presence of normal cells in the blood of 20 patients with type-1 NF1 deletions lacking mosaicism according to MLPA. The ultra-deep sequencing entailed the screening of 96 amplicons for heterozygous SNVs located within the NF1 deletion region. DNA samples from three previously identified patients with type-2 NF1 deletions and low-grade mosaicism with normal cells as determined by FISH or microsatellite marker analysis were used to validate our methodology. In these type-2 NF1 deletion samples, proportions of 5.3%, 6.6% and 15.0% normal cells, respectively, were detected by ultra-deep amplicon sequencing. However, using this highly sensitive method, none of the 20 patients with type-1 NF1 deletions included in our analysis exhibited low-grade mosaicism with normal cells in blood, thereby supporting the view that the vast majority of type-1 deletions are germline deletions.
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