ArticleBlood2006
Natural gene therapy in monozygotic twins with Fanconi anemia.
Article in Blood, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 39 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
39 citing papers in PubMed, 1 synthesis or guideline pooled it, 91 citations in OpenAlex.
- Mosaicism in Fanconi anemia: concise review and evaluation of published cases with focus on clinical course of blood count normalization.Annals of hematology · 2020Pooled it
- Successful engraftment of gene-corrected hematopoietic stem cells in non-conditioned patients with Fanconi anemia.Nature medicine · 2019Trial
- Novel lineage depletion preserves autologous blood stem cells for gene therapy of Fanconi anemia complementation group A.Haematologica · 2018Trial
- Trial
- Clinical and genetic spectrum of Fanconi anemia in Australia and New Zealand.Genetics in medicine open · 2025Article
- Mobilization-based engraftment of haematopoietic stem cells: a new perspective for chemotherapy-free gene therapy and transplantation.British medical bulletin · 2023Review
- Fanconi anaemia: A syndrome with distinct subgroups.British journal of haematology · 2022Article
- Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.Frontiers in oncology · 2022Review
- Somatic mosaicism in inherited bone marrow failure syndromes.Best practice & research. Clinical haematology · 2021Review
- Baboon Envelope Pseudotyped "Nanoblades" Carrying Cas9/gRNA Complexes Allow Efficient Genome Editing in Human T, B, and CD34Frontiers in genome editing · 2021Article
- TALEN mediated gene editing in a mouse model of Fanconi anemia.Scientific reports · 2020Article
- Adenovirus vectors in hematopoietic stem cell genome editing.FEBS letters · 2019Review
- Effective CRISPR/Cas9-mediated correction of a Fanconi anemia defect by error-prone end joining or templated repair.Scientific reports · 2019Article
- From exome analysis in idiopathic azoospermia to the identification of a high-risk subgroup for occult Fanconi anemia.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- Somatic mosaicism of an intragenic FANCB duplication in both fibroblast and peripheral blood cells observed in a Fanconi anemia patient leads to milder phenotype.Molecular genetics & genomic medicine · 2018Article
- Recent advances in understanding hematopoiesis in Fanconi Anemia.F1000Research · 2018Review
- Measles virus envelope pseudotyped lentiviral vectors transduce quiescent human HSCs at an efficiency without precedent.Blood advances · 2017Article
- Article
- Article
- Cytokine overproduction and crosslinker hypersensitivity are unlinked in Fanconi anemia macrophages.Journal of leukocyte biology · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 2 institutions in 1 country.
Funding
Abstract
Monozygotic twin sisters, with nonhematologic symptoms of Fanconi anemia (FA), were discovered to be somatic mosaics for mutations in the FANCA gene. Skin fibroblasts, but not lymphocytes or committed hematopoietic progenitors, were sensitive to DNA cross-linking agents. Molecular analysis revealed, in skin cells of both twins, a frameshift causing deletion in exon 27 (2555deltaT) and an exon 28 missense mutation (2670G>A/R880Q). The latter resulted in primarily cytoplasmic expression and reduced function of the mutant FANCA (R880Q) protein. Surprisingly, the same acquired exon 30 missense change (2927G>A/E966K) was detected in the hematopoietic cells of both sisters, but not in their fibroblasts, nor in either parent. This compensatory mutation existed in cis with the maternal exon 28 mutation, and it restored function and nuclear localization of the resulting protein. Both sisters have been free of hematologic symptoms for more than 2 decades, suggesting that this de novo mutation occurred prenatally in a single hematopoietic stem cell (HSC) in one twin and that descendants of this functionally corrected HSC, via intra-uterine circulation, repopulated the blood lineages of both sisters. This finding suggests that treating FA patients with gene therapy might require transduction of only a few hematopoietic stem cells.
Indexed as
Identifiers
What 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.