Amy E Geddis1, Kenneth Kaushansky. 1. Department of Pediatrics, University of California, San Diego, USA. Ageddis@ucsd.edu
Abstract
PURPOSE OF REVIEW: To review the defined syndromes of inherited thrombocytopenia and discuss new genetic data for several disorders that shed light on the process of megakaryopoiesis. RECENT FINDINGS: The genes responsible for several inherited thrombocytopenias have been recently discovered, including congenital amegakaryocytic leukemia, amegakaryocytic thrombocytopenia with radio-ulnar synostosis, familial platelet syndrome with predisposition to acute myelogenous leukemia, Paris-Trousseau, Wiskott-Aldrich syndrome, and the May-Hegglin, Sebastian, Epstein, and Fechner syndromes. These clinical syndromes, combined with studies in mouse and in vitro models, reveal the importance of these genes for normal hematopoiesis. SUMMARY: Although inherited syndromes of thrombocytopenia are rare, characterization of mutations in these disorders has contributed greatly to our understanding of megakaryocyte and platelet development. A systematic registry of congenitally thrombocytopenic individuals would almost certainly lead to new genetic discoveries.
PURPOSE OF REVIEW: To review the defined syndromes of inherited thrombocytopenia and discuss new genetic data for several disorders that shed light on the process of megakaryopoiesis. RECENT FINDINGS: The genes responsible for several inherited thrombocytopenias have been recently discovered, including congenital amegakaryocytic leukemia, amegakaryocytic thrombocytopenia with radio-ulnar synostosis, familial platelet syndrome with predisposition to acute myelogenous leukemia, Paris-Trousseau, Wiskott-Aldrich syndrome, and the May-Hegglin, Sebastian, Epstein, and Fechner syndromes. These clinical syndromes, combined with studies in mouse and in vitro models, reveal the importance of these genes for normal hematopoiesis. SUMMARY: Although inherited syndromes of thrombocytopenia are rare, characterization of mutations in these disorders has contributed greatly to our understanding of megakaryocyte and platelet development. A systematic registry of congenitally thrombocytopenic individuals would almost certainly lead to new genetic discoveries.
Authors: Michele P Lambert; Laird G Jackson; Dinah Clark; Mani Kaur; Ian D Krantz; Matthew A Deardorff Journal: Am J Med Genet A Date: 2010-12-10 Impact factor: 2.802
Authors: H Jan Johnson; Manish J Gandhi; Ebrahim Shafizadeh; Nathaniel B Langer; Eric L Pierce; Barry H Paw; Diana M Gilligan; Jonathan G Drachman Journal: Exp Hematol Date: 2009-05-19 Impact factor: 3.084