Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata

Amalia Martinez-Mir, Benjamin Glaser, Gary S. Chuang, Liran Horev, Arie Waldman, Danielle E. Engler, Derek Gordon, Lynda J. Spelman, Ioannis Hatzibougias, Jack Green, Angela M. Christiano, Abraham Zlotogorski

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54 Scopus citations

Abstract

Germline mutations in the fumarate hydratase gene (FH) predispose to multiple cutaneous and uterine leiomyoma syndrome (MCL) and MCL associated with renal cell cancer. MCL is inherited in an autosomal dominant pattern, manifesting as skin leiomyoma and uterine fibroids in affected individuals. Fumarate hydratase, a component of the tricarboxylic acid cycle, acts as a tumor suppressor gene in the development of cutaneous and uterine leiomyoma and renal cell cancer in this syndrome. Here we report the clinical and mutational analysis of five families with MCL, with the identification of five new mutations affecting highly conserved residues of the FH protein. These results provide further evidence for the role of the FH gene in the pathogenesis of MCL.

Original languageEnglish (US)
Pages (from-to)741-744
Number of pages4
JournalJournal of Investigative Dermatology
Volume121
Issue number4
DOIs
StatePublished - Oct 1 2003

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

Keywords

  • Leiomyoma
  • Renal cell cancer

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    Martinez-Mir, A., Glaser, B., Chuang, G. S., Horev, L., Waldman, A., Engler, D. E., Gordon, D., Spelman, L. J., Hatzibougias, I., Green, J., Christiano, A. M., & Zlotogorski, A. (2003). Germline Fumarate Hydratase Mutations in Families with Multiple Cutaneous and Uterine Leiomyomata. Journal of Investigative Dermatology, 121(4), 741-744. https://doi.org/10.1046/j.1523-1747.2003.12499.x