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A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma.
- Source :
-
Human genome variation [Hum Genome Var] 2022 Jan 17; Vol. 9 (1), pp. 3. Date of Electronic Publication: 2022 Jan 17. - Publication Year :
- 2022
-
Abstract
- Hereditary leiomyomatosis and renal cell carcinoma caused by loss-of-function germline variants of the FH gene can develop into aggressive renal cell carcinoma (RCC). We report the case of a 27-year-old man who died of RCC. Genetic testing revealed a novel pathogenic variant of FH, NM&#95;000143.3:c.1013&#95;1014del (p.Ile338Serfs*3), that was also identified in healthy siblings. Identification of genetic causes in the proband helped us to provide relatives with precise genetic counseling and appropriate surveillance programs.<br /> (© 2021. The Author(s).)
Details
- Language :
- English
- ISSN :
- 2054-345X
- Volume :
- 9
- Issue :
- 1
- Database :
- MEDLINE
- Journal :
- Human genome variation
- Publication Type :
- Academic Journal
- Accession number :
- 35034951
- Full Text :
- https://doi.org/10.1038/s41439-021-00180-8