Evidence for genetic homogeneity in a familial platelet disorder with predisposition to acute myelogenous leukemia (FPD/AML)
Although familial thrombocytopenias have been described in the literature since the early 1960s,1 they are a rare and heterogeneous group of disorders characterized by varying modes of inheritance. A number of autosomal dominant thrombocytopenias have been described, but their rarity has limited their detailed clinical and genetic analyses. In three kindreds to date,2-4 a unique autosomal dominant thrombocytopenia has been described with a predisposition to acute myelocytic leukemia termed familial platelet disorder-acute myelocytic leukemia (FPD-AML). A potential FPD-AML gene locus was recently mapped to the long arm of chromosome (21q22.1-.2) by linkage analysis in one family.5 We now extend these observations by reporting a new kindred with a similar phenotype, which maps to an overlapping chromosomal region, suggesting that a defect in a single gene may underlie the FPD-AML phenotype.
Arepally, G; Rebbeck, TR; Song, W; Gilliland, G; Maris, JM; Poncz, M
Volume / Issue
Start / End Page
Pubmed Central ID
Electronic International Standard Serial Number (EISSN)
International Standard Serial Number (ISSN)