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A novel inherited mutation of the transcription factor RUNX1 causes thrombocytopenia and may predispose to acute myeloid leukaemia
Author(s) -
Walker Logan C.,
Stevens Jane,
Campbell Hamish,
Corbett Rob,
Spearing Ruth,
Heaton David,
Macdonald Donald H.,
Morris Christine M.,
Ganly Peter
Publication year - 2002
Publication title -
british journal of haematology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.907
H-Index - 186
eISSN - 1365-2141
pISSN - 0007-1048
DOI - 10.1046/j.1365-2141.2002.03512.x
Subject(s) - runx1 , transcription factor , germline mutation , myeloid , germline , point mutation , genetics , haematopoiesis , cancer research , biology , gata2 , gene , mutation , ets transcription factor family , stem cell
Summary. The RUNX1 ( AML1 , CBFA2 ) gene is a member of the runt transcription factor family, responsible for DNA binding and heterodimerization of other non‐DNA binding transcription factors. RUNX1 plays an important part in regulating haematopoiesis and it is frequently disrupted by illegitimate somatic recombination in both acute myeloid and lymphoblastic leukaemia. Germline mutations of RUNX1 have also recently been described and are dominantly associated with inherited leukaemic conditions. We have identified a unique point mutation of the RUNX1 gene (A107P) in members of a family with autosomal dominant inheritance of thrombocytopenia. One member has developed acute myeloid leukaemia (AML).