Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F61989592%3A15110%2F13%3A33144954" target="_blank" >RIV/61989592:15110/13:33144954 - isvavai.cz</a>
Result on the web
<a href="http://bloodjournal.hematologylibrary.org/content/121/19/3918.long" target="_blank" >http://bloodjournal.hematologylibrary.org/content/121/19/3918.long</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1182/blood-2012-11-469296" target="_blank" >10.1182/blood-2012-11-469296</a>
Alternative languages
Result language
angličtina
Original language name
Novel homozygous VHL mutation in exon 2 is associated with congenital polycythemia but not with cancer
Original language description
Germline von Hippel-Lindau (VHL) gene mutations underlie dominantly inherited familial VHL tumor syndrome comprising a predisposition for renal cell carcinoma, pheochromocytoma/paraganglioma, cerebral hemangioblastoma, and endolymphatic sac tumors. However, recessively inherited congenital polycythemia, exemplified by Chuvash polycythemia, has been associated with 2 separate 3' VHL gene mutations in exon 3. It was proposed that different positions of loss-of-function VHL mutations are associated with VHL syndrome cancer predisposition and only C-terminal domain-encoding VHL mutations would cause polycythemia. However, now we describe a new homozygous VHL exon 2 mutation of the VHL gene:(c.413C}T):P138L, which is associated in the affected homozygote with congenital polycythemia but not in her, or her-heterozygous relatives, with cancer or other VHL syndrome tumors. We show that VHL(P138L) has perturbed interaction with hypoxia-inducible transcription factor (HIF)1?. Further, VHL(P138L)
Czech name
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Czech description
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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
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Result continuities
Project
Result was created during the realization of more than one project. More information in the Projects tab.
Continuities
P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)<br>S - Specificky vyzkum na vysokych skolach
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
Blood (print)
ISSN
0006-4971
e-ISSN
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Volume of the periodical
121
Issue of the periodical within the volume
19
Country of publishing house
US - UNITED STATES
Number of pages
7
Pages from-to
3918-3924
UT code for WoS article
000321870900022
EID of the result in the Scopus database
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