Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11110%2F13%3A10194616" target="_blank" >RIV/00216208:11110/13:10194616 - isvavai.cz</a>
Alternative codes found
RIV/00064165:_____/13:10194616
Result on the web
<a href="http://dx.doi.org/10.1111/j.1447-0756.2012.01939.x" target="_blank" >http://dx.doi.org/10.1111/j.1447-0756.2012.01939.x</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1111/j.1447-0756.2012.01939.x" target="_blank" >10.1111/j.1447-0756.2012.01939.x</a>
Alternative languages
Result language
angličtina
Original language name
Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids
Original language description
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
Czech name
—
Czech description
—
Classification
Type
J<sub>x</sub> - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)
CEP classification
EB - Genetics and molecular biology
OECD FORD branch
—
Result continuities
Project
<a href="/en/project/NS9798" target="_blank" >NS9798: The occlusive methods of treatment of uterine fibroids in women of fertile age</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2013
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Journal of Obstetrics and Gynaecology Research
ISSN
1341-8076
e-ISSN
—
Volume of the periodical
39
Issue of the periodical within the volume
1
Country of publishing house
US - UNITED STATES
Number of pages
5
Pages from-to
410-414
UT code for WoS article
000313250800068
EID of the result in the Scopus database
—