ArticleBrain and behavior2018
A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family.
Article in Brain and behavior, 2018. 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, 11 citations in OpenAlex.
- A molecular perspective of gelsolin amyloidosis: An old foe with new faces.Cellular and molecular life sciences : CMLS · 2026Review
- Article
- Clinical and Histopathological Features of Gelsolin Amyloidosis Associated with a NovelInternational journal of molecular sciences · 2021Article
- A novel hotspot of gelsolin instability triggers an alternative mechanism of amyloid aggregation.Computational and structural biotechnology journal · 2021Article
- Analyses Mutations inFrontiers in aging neuroscience · 2020Article
- Clinical, histopathological, and in silico pathogenicity analyses in a pedigree with familial amyloidosis of the Finnish type (Meretoja syndrome) caused by a novel gelsolin mutation.Molecular vision · 2020Article
- The role of gelsolin domain 3 in familial amyloidosis (Finnish type).Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- A new heterozygous G duplicate in exon1 (c.100dupG) of gelsolin gene causes Finnish gelsolin amyloidosis in a Chinese family.Brain and behavior · 2018Article
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Authors and funding
5 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
objectivesIn this study, we report a case of Finnish gelsolin amyloidosis (FGA) in a Chinese family.
methodsThe proband presented with a range of clinical symptoms that included epileptic seizures and multiple lesions in the brain. Whole exome sequencing of the Gelsolin (GSN) gene was performed, and the GSN mutation was identified through comparison with the known human genome sequences using Genetic Testing Intelligent Execution System.
resultsThe GSN gene sequencing revealed that a heterozygous G duplicate in exon1 (c.100dupG) of the GSN gene, which caused a frameshift in GSN transcript translation in the proband, his mother and daughter, but his brother did not have it.
conclusionWe presented a new autosomal dominant heterozygous G duplicate mutation in exon1 of GSN gene, leading to FGA in a Chinese family.
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