Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia
The result's identifiers
Result code in IS VaVaI
<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00064203%3A_____%2F21%3A10413706" target="_blank" >RIV/00064203:_____/21:10413706 - isvavai.cz</a>
Alternative codes found
RIV/65269705:_____/21:00074408 RIV/00216224:14740/21:00120094 RIV/00216208:11130/21:10413706
Result on the web
<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Wf6hM05guN" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=Wf6hM05guN</a>
DOI - Digital Object Identifier
<a href="http://dx.doi.org/10.1080/09537104.2020.1802416" target="_blank" >10.1080/09537104.2020.1802416</a>
Alternative languages
Result language
angličtina
Original language name
Functional analysis of germline ETV6 W380R mutation causing inherited thrombocytopenia and secondary acute lymphoblastic leukemia or essential thrombocythemia
Original language description
Germline mutations in ETV6 gene cause inherited thrombocytopenia with leukemia predisposition. Here, we report on functional validation of ETV6 W380R mutation segregating with thrombocytopenia in a family where two family members also suffered from acute lymphoblastic leukemia (ALL) or essential thrombocythemia (ET). In-silico analysis predicted impaired DNA binding due to W380R mutation. Functional analysis showed that this mutation prevents the ETV6 protein from localizing into the cell nucleus and impairs the transcriptional repression activity of ETV6. Based on the germline ETV6 mutation, ET probably started with somatic JAK2 V617F mutation, whereas ALL could be caused by diverse mechanisms: high-hyperdiploidity; somatic deletion of exon 1 IKZF1 gene; or somatic mutations of other genes found by exome sequencing of the ALL sample taken at the diagnosis.
Czech name
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Czech description
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Classification
Type
J<sub>imp</sub> - Article in a specialist periodical, which is included in the Web of Science database
CEP classification
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OECD FORD branch
30205 - Hematology
Result continuities
Project
<a href="/en/project/NU20-08-00137" target="_blank" >NU20-08-00137: Searching and functional testing of gene variants predisposing to familial haematopoietic disorders</a><br>
Continuities
I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace
Others
Publication year
2021
Confidentiality
S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů
Data specific for result type
Name of the periodical
Platelets
ISSN
0953-7104
e-ISSN
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Volume of the periodical
32
Issue of the periodical within the volume
6
Country of publishing house
GB - UNITED KINGDOM
Number of pages
4
Pages from-to
838-841
UT code for WoS article
000561184900001
EID of the result in the Scopus database
2-s2.0-85089688332