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

Nat. Genet.. 2015-05; 
NoetzliLeila,LoRichard W,Lee-SherickAlisa B,CallaghanMichael,NorisPatrizia,SavoiaAnna,RajpurkarMadhvi,JonesKenneth,GowanKatherine,BalduiniCarlo,PecciAlessandro,GnanChiara,De RoccoDaniela,DoubekMichael,LiLing,LuLily,LeungRichard,Landolt-MarticorenaCarolina,HungerStephen,HellerPaula,Gutierrez-HartmannArthur,XiayuanLiang,PlutheroFred G,RowleyJesse W,WeyrichAndrew S,KahrWalter H A,PorterChristopher C,Di PaolaJ
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Custom Vector Construction A construct designed to encode the alternatively spliced/truncated (p.385_418del, p.Asn385Valfs*7) ETV6 was made by GenScript and cloned into the pCMV-Entry C-terminal Myc/DDK tagged vector. Get A Quote

摘要

Some familial platelet disorders are associated with predisposition to leukemia, myelodysplastic syndrome (MDS) or dyserythropoietic anemia. 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>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... More

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