ArticleMolecular genetics & genomic medicine2020
Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings.
Article in Molecular genetics & genomic medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 4 citations in OpenAlex.
- Gene variants polymorphisms and uterine leiomyoma: an updated review.Frontiers in genetics · 2024Review
- Article
- Genotypic and Phenotypic Characteristics of Hereditary Leiomyomatosis and Renal Cell Cancer Syndrome in Korean Patients.Annals of laboratory medicine · 2021Article
- Novel FH mutation associated with multiple uterine leiomyomas in Chinese siblings.Molecular genetics & genomic medicine · 2020Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundFumarate hydratase (FH) plays an important role in cell metabolism. Germline mutation of FH may cause hereditary leiomyomatosis and renal cell cancer syndrome. The correlation between various mutations of FH gene and the phenotype is controversial and needs further study. Therefore, this article described a novel mutation in siblings with multiple uterine leiomyomas.
methodsWhole-exome sequencing was performed on the two patients and their family members using their peripheral blood. The function of the DNA variant was predicted in silico.
resultsPathology results showed characteristics of leiomyoma. A novel missense mutation of FH gene (c.1214A＞G, p.Leu405Ser) was identified in both patients and their father. This mutation was predicted to be probably pathogenic and deleterious.
conclusionThis study indicated that the novel mutation may be responsible for the occurrence of multiple uterine leiomyomas. However, the risk of renal disease should not be ignored and regular screening was recommended.
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