ArticleAmerican journal of human genetics1996
Somatic mosaicism in a patient with neurofibromatosis type 1.
Article in American journal of human genetics, 1996. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
15 citing papers in PubMed, 1 synthesis or guideline pooled it, 113 citations in OpenAlex.
- Neurofibromatosis type 1 in genetic counseling practice: recommendations of the National Society of Genetic Counselors.Journal of genetic counseling · 2007Guideline
- High-yield identification of pathogenic NF1 variants by skin fibroblast transcriptome screening after apparently normal diagnostic DNA testing.Human mutation · 2022Article
- RAS GTPase-dependent pathways in developmental diseases: old guys, new lads, and current challenges.Current opinion in cell biology · 2018Review
- The NF1 somatic mutational landscape in sporadic human cancers.Human genomics · 2017Review
- Somatic mosaicism: on the road to cancer.Nature reviews. Cancer · 2016Review
- Mosaic RASopathies.Cell cycle (Georgetown, Tex.) · 2013Review
- Connective tissue dysplasia in five new patients with NF1 microdeletions: further expansion of phenotype and review of the literature.Journal of medical genetics · 2006Review
- Piecing together the puzzle of cutaneous mosaicism.The Journal of clinical investigation · 2004Article
- Genetic and clinical mosaicism in a patient with neurofibromatosis type 1.Human genetics · 2004Article
- Somatic mosaicism in hemophilia A: a fairly common event.American journal of human genetics · 2001Article
- Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the GAP-related domain.American journal of human genetics · 2000Article
- Minor disease features in neurofibromatosis type 1 (NF1) and their possible value in diagnosis of NF1 in children < or = 6 years and clinically suspected of having NF1. Neurofibromatosis team of Sophia Children's Hospital.Journal of medical genetics · 1998Article
- Constitutional and mosaic large NF1 gene deletions in neurofibromatosis type 1.Journal of medical genetics · 1998Article
- Frequency of somatic and germ-line mosaicism in retinoblastoma: implications for genetic counseling.American journal of human genetics · 1998Article
- Constitutional RB1-gene mutations in patients with isolated unilateral retinoblastoma.American journal of human genetics · 1997Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
5 authors at 1 institution in 1 country.
Funding
Abstract
Using loss of heterozygosity analysis, a method designed to detect moderate to large gene deletions, we have identified a new-mutation neurofibromatosis type 1 (NF1) patient who is somatically mosaic for a large maternally derived deletion in the NF1 gene region. The deletion extends at least from exon 4 near the 5' end of the gene to intron 39 near the 3' end. The gene-coding region is, therefore, mostly or entirely deleted, encompassing a loss of > or = 100 kb. We hypothesize that the deletion occurred at a relatively early developmental timepoint, since signs of NF1 in this patient are not confined to a specific body region, as seen in "segmental" NF, and since both mesodermally and ectodermally derived cells are affected. This report provides the first molecular evidence of somatic mosaicism in NF1 and, taken together with a recent report of germ-line mosaicism in NF1, adds credence to the concept that mosaicism plays an important role in phenotypic and genetic aspects of NF1 and may even be a relatively common phenomenon.
Indexed as
Identifiers
8644707PMC1914580W94219893What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.