ArticleHuman genetics2017
Somatic mosaicism with reversion to normality of a mutated transthyretin allele related to a familial amyloidotic polyneuropathy.
Article in Human genetics, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
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Who cites it
8 citing papers in PubMed, 8 citations in OpenAlex.
- Unilateral vitreous amyloidosis as the presenting feature of hereditary transthyretin amyloidosis (TTR p.Val50Met): a case report and focused literature review.BMC ophthalmology · 2026Review
- Targeted Molecular Screening ofInternational journal of molecular sciences · 2026Article
- Pathogenic Characterization of a Novel G47R Transthyretin Mutation in Early-Onset Amyloid Cardiomyopathy.Journal of the American Heart Association · 2026Article
- Hereditary transthyretin amyloidosis: a myriad of factors that influence phenotypic variability.Journal of neurology · 2024Review
- Altered gut microbiota in Taiwanese A97S predominant transthyretin amyloidosis with polyneuropathy.Scientific reports · 2024Article
- Hereditary Transthyretin-Related Amyloidosis: Genetic Heterogeneity and Early Personalized Gene Therapy.Biomedicines · 2022Review
- Revertant Mosaicism in Genodermatoses: Natural Gene Therapy Right before Your Eyes.Biomedicines · 2022Review
- Somatic genetic rescue in Mendelian haematopoietic diseases.Nature reviews. Genetics · 2019Review
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Authors and funding
6 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Familial amyloidotic polyneuropathy (FAP) is a progressive neuropathy, with onset in adulthood and high mortality. It is related to an altered transthyretin (TTR) plasma protein, mainly produced by the liver and responsible for amyloid deposit in the peripheral nervous system. SNPs in the TTR gene were associated with FAP, and the G>C substitution (NM_000371.3:c.325G>C) in the 109th codon (GAG vs CAG; NP_362.1:p.E109Q) was previously described in Sicily (Italy). Here, we report on a Sicilian family with several patients affected by FAP related to the E109Q mutation, which displayed a somatic mosaicism with the reversion to normality of the c.325G>C mutation. After exclusion of isodisomy and allele deletion, this event seems to be due to a rare, post-zygotic interallelic gene conversion with the wild-type allele serving as a donor. Further investigations will be necessary to better understand the molecular basis of this phenomenon, and could help determine if this can be induced in a targeted manner in the context of natural gene therapy to treat TTR-related FAP patients, as previously proposed for other diseases. Moreover, our results confirm the need to perform DNA-based diagnostic tests with at least a second tissue when a suspected germline mutation in a candidate gene is not identified in the first tissue.
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