ArticleJournal of molecular medicine (Berlin, Germany)2005
Tyrosinaemia type I--de novo mutation in liver tissue suppressing an inborn splicing defect.
Article in Journal of molecular medicine (Berlin, Germany), 2005. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 30 citations in OpenAlex.
- Deoxyguanosine kinase deficiency: natural history and liver transplant outcome.Brain communications · 2024Article
- A False-Negative Newborn Screen for Tyrosinemia Type 1-Need for Re-Evaluation of Newborn Screening with Succinylacetone.International journal of neonatal screening · 2023Article
- Plasma fetal bile acids 7α-hydroxy-3-oxochol-4-en-24-oic acid and 3-oxachola-4,6-dien-24-oic acid indicate severity of liver cirrhosis.Scientific reports · 2021Article
- A six-attribute classification of genetic mosaicism.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Review
- Tissue-specific FAH deficiency alters sleep-wake patterns and results in chronic tyrosinemia in mice.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- The somatic FAH C.1061C>A change counteracts the frequent FAH c.1062+5G>A mutation and permits U1snRNA-based splicing correction.Journal of human genetics · 2018Article
- Geographical and Ethnic Distribution of Mutations of the Fumarylacetoacetate Hydrolase Gene in Hereditary Tyrosinemia Type 1.JIMD reports · 2015Article
- Multi-tissue computational modeling analyzes pathophysiology of type 2 diabetes in MKR mice.PloS one · 2014Article
- Fumarylacetoacetate inhibits the initial step of the base excision repair pathway: implication for the pathogenesis of tyrosinemia type I.Journal of inherited metabolic disease · 2013Article
- Point mutation instability (PIN) mutator phenotype as model for true back mutations seen in hereditary tyrosinemia type 1 - a hypothesis.Journal of inherited metabolic disease · 2012Article
- Revertant mosaicism in junctional epidermolysis bullosa due to multiple correcting second-site mutations in LAMB3.The Journal of clinical investigation · 2007Article
- Cutaneous mosaicism: right before our eyes.The Journal of clinical investigation · 2007Review
- Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.American journal of human genetics · 2005Article
Corrections and comments
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Authors and funding
5 authors at 3 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Many patients with tyrosinaemia type 1 have a mosaic pattern of fumarylacetoacetase (FAH) immunopositive or immunonegative nodules in liver tissue. This phenomenon has been explained by a spontaneous reversion of the mutation in one allele to a normal genotype, but only a few nodules have been examined. We now report on a Norwegian patient, compound heterozygous for the mutations IVS12g(+5)-->a and G(1009-->)A, with liver mosaicism, but with an immunopositive nodule in which both primary mutations were intact. In the immunopositive hepatocytes of this nodule, genetic analyses showed a new mutation, C(1061-->)A, 6 bp upstream of the primary mutation IVS12g(+5)-->a in the FAH gene. The splicing defect caused by the primary mutation is most likely suppressed by the new mutation due to improvement of the splicing site. In the same liver we demonstrate another nodule of regenerating immunopositive tissue due to reversion of one of the primary mutations to a normal genotype. Together with the original cells this makes a triple mosaicism of hepatocytes with one, two or three point mutations in the FAH gene.
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