Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14110%2F15%3A00083395" target="_blank" >RIV/00216224:14110/15:00083395 - isvavai.cz</a>

Alternative codes found

RIV/65269705:_____/15:00063083

Result on the web

<a href="http://dx.doi.org/10.1038/ng.3253" target="_blank" >http://dx.doi.org/10.1038/ng.3253</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1038/ng.3253" target="_blank" >10.1038/ng.3253</a>

Result language

angličtina

Original language name

Germline mutations in ETV6 are associated with thrombocytopenia, red cell macrocytosis and predisposition to lymphoblastic leukemia

Original language description

Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia(1,2). We identified a family with autosomal dominant thrombocytopenia, high erythrocyte mean corpuscular volume (MCV) and two occurrences of B cell-precursor acute lymphoblastic leukemia (ALL). Whole-exome sequencing identified a heterozygous single-nucleotide change in ETV6 (ets variant 6), c.641C&gt;T, encoding a p.Pro214Leu substitution in the central domain, segregating with thrombocytopenia and elevated MCV. A screen of 23 families with similar phenotypes identified 2 with ETV6 mutations. One family also had a mutation encoding p.Pro214Leu and one individual with ALL. The other family had a c.1252A&gt;G transition producing a p.Arg418Gly substitution in the DNA-binding domain, with alternative splicing and exon skipping.

Czech name

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Czech description

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Type

J_x - Unclassified - Peer-reviewed scientific article (Jimp, Jsc and Jost)

CEP classification

FD - Oncology and haematology

OECD FORD branch

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Project

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Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2015

Confidentiality

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

Name of the periodical

Nature genetics

ISSN

1061-4036

e-ISSN

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Volume of the periodical

47

Issue of the periodical within the volume

5

Country of publishing house

US - UNITED STATES

Number of pages

6

Pages from-to

"535"-"U143"

UT code for WoS article

000353635800018

EID of the result in the Scopus database

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