Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids

Kód výsledku v 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>

Nalezeny alternativní kódy

RIV/00064165:_____/13:10194616

Výsledek na webu

<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>

Jazyk výsledku

angličtina

Název v původním jazyce

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids

Popis výsledku v původním jazyce

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

Název v anglickém jazyce

Fumarate hydratase gene mutation in two young patients with sporadic uterine fibroids

Popis výsledku anglicky

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

Druh

J_x - Nezařazeno - Článek v odborném periodiku (Jimp, Jsc a Jost)

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

<a href="/cs/project/NS9798" target="_blank" >NS9798: Okluzivní metody léčby děložních myomů u žen ve fertilním věku</a><br>

Návaznosti

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Rok uplatnění

2013

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název periodika

Journal of Obstetrics and Gynaecology Research

ISSN

1341-8076

e-ISSN

—

Svazek periodika

39

Číslo periodika v rámci svazku

1

Stát vydavatele periodika

US - Spojené státy americké

Počet stran výsledku

5

Strana od-do

410-414

Kód UT WoS článku

000313250800068

EID výsledku v databázi Scopus

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