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Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids.
J Obstet Gynaecol Res. 2013 Jan; 39(1):410-4.JO

Abstract

Fumarate hydratase (FH) is a key enzyme of the Krebs cycle. Germline mutations in the FH gene encoding fumarate hydratase cause autosomal dominant syndromes multiple cutaneous and uterine leiomyomata and hereditary leiomyomatosis and renal cell cancer (HLRCC). Few data have been published on the role of FH gene mutation in development of uterine fibroids outside the context of multiple cutaneous and uterine leiomyomata /HLRCC. We report two FH gene mutations, one novel and one previously described, in two young patients with sporadic uterine fibroids and decreased fumarate hydratase activity in lymphocytes. In patient 1, a novel heterozygous mutation c.892G>C was found. In patient 2 we detected heterozygous mutation c.584T>C. Both the patients had a negative family history for renal cancer and cutaneous leiomyomatosis. None of the relatives, however, underwent renal imaging at the time of writing. FH mutation carriers may be easily identified by analysis of fumarate hydratase activity in blood lymphocytes. We suggest performing fumarate hydratase activity or FH mutation screening in women with onset of uterine fibroids in their 20s and family history of uterine fibroids or other HLRCC-associated malignancies.

Authors+Show Affiliations

Departments of Obstetrics and Gynecology Pediatrics and Adolescent Medicine Genetics, First Faculty of Medicine, Charles University General University Hospital in Prague, Prague, Czech Republic. kristynakubinova@gmail.comNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Case Reports
Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

22764886

Citation

Kubinova, Kristyna, et al. "Fumarate Hydratase Gene Mutation in Two Young Patients With Sporadic Uterine Fibroids." The Journal of Obstetrics and Gynaecology Research, vol. 39, no. 1, 2013, pp. 410-4.
Kubinova K, Tesarova M, Hansikova H, et al. Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. J Obstet Gynaecol Res. 2013;39(1):410-4.
Kubinova, K., Tesarova, M., Hansikova, H., Vesela, K., Kuzel, D., & Mara, M. (2013). Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. The Journal of Obstetrics and Gynaecology Research, 39(1), 410-4. https://doi.org/10.1111/j.1447-0756.2012.01939.x
Kubinova K, et al. Fumarate Hydratase Gene Mutation in Two Young Patients With Sporadic Uterine Fibroids. J Obstet Gynaecol Res. 2013;39(1):410-4. PubMed PMID: 22764886.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids. AU - Kubinova,Kristyna, AU - Tesarova,Marketa, AU - Hansikova,Hana, AU - Vesela,Kamila, AU - Kuzel,David, AU - Mara,Michal, Y1 - 2012/07/06/ PY - 2012/7/7/entrez PY - 2012/7/7/pubmed PY - 2013/12/16/medline SP - 410 EP - 4 JF - The journal of obstetrics and gynaecology research JO - J Obstet Gynaecol Res VL - 39 IS - 1 N2 - Fumarate hydratase (FH) is a key enzyme of the Krebs cycle. Germline mutations in the FH gene encoding fumarate hydratase cause autosomal dominant syndromes multiple cutaneous and uterine leiomyomata and hereditary leiomyomatosis and renal cell cancer (HLRCC). Few data have been published on the role of FH gene mutation in development of uterine fibroids outside the context of multiple cutaneous and uterine leiomyomata /HLRCC. We report two FH gene mutations, one novel and one previously described, in two young patients with sporadic uterine fibroids and decreased fumarate hydratase activity in lymphocytes. In patient 1, a novel heterozygous mutation c.892G>C was found. In patient 2 we detected heterozygous mutation c.584T>C. Both the patients had a negative family history for renal cancer and cutaneous leiomyomatosis. None of the relatives, however, underwent renal imaging at the time of writing. FH mutation carriers may be easily identified by analysis of fumarate hydratase activity in blood lymphocytes. We suggest performing fumarate hydratase activity or FH mutation screening in women with onset of uterine fibroids in their 20s and family history of uterine fibroids or other HLRCC-associated malignancies. SN - 1447-0756 UR - https://www.unboundmedicine.com/medline/citation/22764886/Fumarate_hydratase_gene_mutation_in_two_young_patients_with_sporadic_uterine_fibroids_ L2 - https://doi.org/10.1111/j.1447-0756.2012.01939.x DB - PRIME DP - Unbound Medicine ER -