Human Genome Variation (Jan 2022)

A novel pathogenic variant of the FH gene in a family with hereditary leiomyomatosis and renal cell carcinoma

  • Yasuto Yagi,
  • Naoko Abeto,
  • Junichi Shiraishi,
  • Chieko Miyata,
  • Satomi Inoue,
  • Haruka Murakami,
  • Moeko Nakashima,
  • Kokichi Sugano,
  • Mineko Ushiama,
  • Teruhiko Yoshida,
  • Kazuki Yamazawa

DOI
https://doi.org/10.1038/s41439-021-00180-8
Journal volume & issue
Vol. 9, no. 1
pp. 1 – 3

Abstract

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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_000143.3:c.1013_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.