ArticleAmerican journal of human genetics2012
Revertant somatic mosaicism by mitotic recombination in dyskeratosis congenita.
Article in American journal of human genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers, 1 of them a synthesis that pooled it.
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Who cites it
67 citing papers in PubMed, 1 synthesis or guideline pooled it, 118 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
- ConstitutionalHaematologica · 2018Trial
- RTEL1 mutation modifies dyskeratosis congenita caused by a telomerase RNA template mutation.Nature communications · 2026Article
- Saturating variant analysis of TERC redefines the human telomerase reverse transcription mechanism.bioRxiv : the preprint server for biology · 2026Article
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Lipid metabolism transcriptomic signature of defective erythropoiesis in Diamond Blackfan anemia syndrome.Blood advances · 2026Article
- ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.The Journal of clinical investigation · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Hemophagocytic Lymphohistiocytosis Gene Variants in Severe Aplastic Anemia and Their Impact on Hematopoietic Cell Transplantation Outcomes.Transplantation and cellular therapy · 2024Article
- Unraveling facets of MECOM-associated syndrome: somatic genetic rescue, clonal hematopoiesis, and phenotype expansion.Blood advances · 2024Article
- Spontaneous remission and loss of monosomy 7: a window of opportunity for young children with SAMD9L syndrome.Haematologica · 2024Article
- Clonal evolution in inherited marrow failure syndromes predicts disease progression.Hematology. American Society of Hematology. Education Program · 2023Review
- Telomeres: Dysfunction, Maintenance, Aging and Cancer.Aging and disease · 2023Review
- Sporadic and Familial Acute Myeloid Leukemia with CEBPA Mutations.Current hematologic malignancy reports · 2023Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- Gain-of-function mutations in RPA1 cause a syndrome with short telomeres and somatic genetic rescue.Blood · 2022Article
- Recent advances in understanding telomere diseases.Faculty reviews · 2022Review
- Lessons From Pediatric MDS: Approaches to Germline Predisposition to Hematologic Malignancies.Frontiers in oncology · 2022Review
- Mechanisms of somatic transformation in inherited bone marrow failure syndromes.Hematology. American Society of Hematology. Education Program · 2021Review
- Somatic reversion impacts myelodysplastic syndromes and acute myeloid leukemia evolution in the short telomere disorders.The Journal of clinical investigation · 2021Article
7 more citing papers are in PubMed but not listed here.
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Authors and funding
16 authors at 2 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Revertant mosaicism is an infrequently observed phenomenon caused by spontaneous correction of a pathogenic allele. We have observed such reversions caused by mitotic recombination of mutant TERC (telomerase RNA component) alleles in six patients from four families affected by dyskeratosis congenita (DC). DC is a multisystem disorder characterized by mucocutaneous abnormalities, dystrophic nails, bone-marrow failure, lung fibrosis, liver cirrhosis, and cancer. We identified a 4 nt deletion in TERC in a family with an autosomal-dominant form of DC. In two affected brothers without bone-marrow failure, sequence analysis revealed pronounced overrepresentation of the wild-type allele in blood cells, whereas no such skewing was observed in the other tissues tested. These observations suggest that this mosaic pattern might have resulted from somatic reversion of the mutated allele to the normal allele in blood-forming cells. SNP-microarray analysis on blood DNA from the two brothers indeed showed independent events of acquired segmental isodisomy of chromosome 3q, including TERC, indicating that the reversions must have resulted from mitotic recombination events. Subsequently, after developing a highly sensitive method of detecting mosaic homozygosity, we have found four additional cases with a mosaic-reversion pattern in blood cells; these four cases are part of a cohort of 17 individuals with germline TERC mutations. This shows that revertant mosaicism is a recurrent event in DC. This finding has important implications for improving diagnostic testing and understanding the variable phenotype of DC.
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