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A novel germline JAK2 mutation in familial myeloproliferative neoplasms
Author(s) -
Rumi Elisa,
Harutyunyan Ashot S.,
Casetti Ilaria,
Pietra Daniela,
Nivarthi Harini,
Moriggl Richard,
Cleary Ciara,
Bagienski Klaudia,
Astori Cesare,
Bellini Marta,
Berg Tiina,
Passamonti Francesco,
Kralovics Robert,
Cazzola Mario
Publication year - 2014
Publication title -
american journal of hematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.456
H-Index - 105
eISSN - 1096-8652
pISSN - 0361-8609
DOI - 10.1002/ajh.23614
Subject(s) - genetics , germline , germline mutation , mutation , missense mutation , biology , proband , sanger sequencing , myeloproliferative neoplasm , thrombopoietin , exome sequencing , cancer research , gene , myelofibrosis , immunology , bone marrow , stem cell , haematopoiesis
The novel H608N mutation is mapped in exon 14, as the classic V617F mutation. Histidine 608 belongs to the JH2 domain of JAK2 protein, which inhibits the JH1 kinase domain. Mutations affecting the JH2 domain, as H608N, might impair the regulatory function of JH2 and increase the kinase activity.\udTwo cases of hereditary thrombocytosis associated with novel JAK2 germline mutations (R564Q and V617I) have been recently reported. According to these previous reports and to our study, it seems that JAK2 germline mutations might account for some cases of familial ET that are indeed hereditary thrombocytosis