ArticleJournal of medical genetics2017
A novel somatic mutation achieves partial rescue in a child with Hutchinson-Gilford progeria syndrome.
Article in Journal of medical genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 41 citations in OpenAlex.
- Transcriptional profiling of Hutchinson-Gilford progeria patients identifies primary target pathways of progerin.Nucleus (Austin, Tex.) · 2026Article
- Targeting mitochondrial deubiquitinase USP30 to induce mitophagy in heteroplasmic mitochondrial diseases.Pharmacological reports : PR · 2026Article
- Hematopoietic (stem) cells-The elixir of life?FEBS letters · 2026Review
- Progerin regulates actin cytoskeletal remodeling and inhibits EMT and metastasis in triple‑negative breast cancer cells.International journal of oncology · 2025Article
- Transcriptional profiling of Hutchinson-Gilford Progeria patients identifies primary target pathways of progerin.bioRxiv : the preprint server for biology · 2025Article
- Triple mosaic variants of PURA in a patient with multiple congenital anomalies.Journal of human genetics · 2025Article
- Rescue of a panel of Hemophilia A-causing 5'ss splicing mutations by unique Exon-specific U1snRNA variants.Molecular medicine (Cambridge, Mass.) · 2025Article
- Indirect bypass for revascularization in Hutchinson-Gilford progeria syndrome: an illustrative case.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2025Review
- The Basis of Diversity in Laminopathy Phenotypes Caused by Variants in the Intron 8 Donor Splice Site of theInternational journal of molecular sciences · 2025Article
- Human embryonic genetic mosaicism and its effects on development and disease.Nature reviews. Genetics · 2024Review
- Evaluating the performance of low-frequency variant calling tools for the detection of variants from short-read deep sequencing data.Scientific reports · 2023Article
- Article
- AlphaFold, Artificial Intelligence (AI), and Allostery.The journal of physical chemistry. B · 2022Review
- Somatic Mutations Detected in Parkinson Disease Could Affect Genes With a Role in Synaptic and Neuronal Processes.Frontiers in aging · 2022Article
- Hutchinson-Gilford progeria syndrome complicated with stroke: A report of 2 cases and literature review.Frontiers in pediatrics · 2022Article
- Clinical implementation and current advancement of blood liquid biopsy in cancer.Journal of human genetics · 2021Review
- Evaluation of musculoskeletal phenotype of the G608G progeria mouse model with lonafarnib, pravastatin, and zoledronic acid as treatment groups.Proceedings of the National Academy of Sciences of the United States of America · 2020Article
- UMI-Gen: A UMI-based read simulator for variant calling evaluation in paired-end sequencing NGS libraries.Computational and structural biotechnology journal · 2020Article
- smCounter2: an accurate low-frequency variant caller for targeted sequencing data with unique molecular identifiers.Bioinformatics (Oxford, England) · 2019Article
- Development of a CRISPR/Cas9-based therapy for Hutchinson-Gilford progeria syndrome.Nature medicine · 2019Article
Corrections and comments
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Authors and funding
11 authors at 6 institutions in 2 countries.
Funding
Abstract
backgroundHutchinson-Gilford progeria syndrome (HGPS) is a fatal sporadic autosomal dominant premature ageing disease caused by single base mutations that optimise a cryptic splice site within exon 11 of the METHODS AND
resultsWe report a novel form of somatic mosaicism, where a child possessed two cell populations with different HGPS disease-producing mutations of the same nucleotide-one producing severe HGPS and one mild HGPS. The proband possessed an intermediate phenotype. The mosaicism was initially discovered when Sanger sequencing showed a c.1968+2T>A mutation in blood DNA and a c.1968+2T>C in DNA from cultured fibroblasts. Deep sequencing of DNA from the proband's blood revealed 4.7% c.1968+2T>C mutation, and 41.3% c.1968+2T>A mutation.
conclusionsWe hypothesise that the germline mutation was c.1968+2T>A, but a rescue event occurred during early development, where the somatic mutation from A to C at 1968+2 provided a selective advantage. This type of mosaicism where a partial phenotypic rescue event results from a second but milder disease-causing mutation in the same nucleotide has not been previously characterised for any disease.
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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.