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This Article Full Text Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager Rights and Permissions Citing Articles Citing Articles via HighWire Citing Articles via CrossRef Citing Articles via Google Scholar Google Scholar Articles by Costa, J.-M. Articles by Lavergne, J.-M. Search for Related Content PubMed PubMed Citation Articles by Costa, J.-M. Articles by Lavergne, J.-M. Related Collections Hemostasis, Thrombosis, and Vascular Biology Brief Reports Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  Blood, 15 August 2000, Vol. 96, No. 4, pp. 1585-1587 BRIEF REPORT Somatic mosaicism and compound heterozygosity in female hemophilia B Jean-Marc Costa, Dominique Vidaud, Ingrid Laurendeau, Michel Vidaud, Edith Fressinaud, Jean-Pierre Moisan, Albert David, Dominique Meyer, and Jean-Maurice Lavergne From the American Hospital of Paris, Neuilly, France; the UPRESS-JE 2195, Faculté de Pharmacie Paris V, Paris, France; the Centre Hospitalier Régional Universitaire, Nantes, France; and the INSERM U 143 and Assistance Publique Hôpitaux de Paris, Hôpital Bicêtre, Bicêtre, France. Sequencing the complete factor IX gene of 2 sisters with hemophilia B with different phenotypes and no family history of hemorrhagic diathesis revealed a common 5' splice site mutation in intron 3 (T6704C) in both and an additional missense mutation (I344T) in one. The presence of dysfunctional antigen in the latter strongly suggested that these mutations are in trans. Neither mutation was found in leukocyte DNA from the asymptomatic parents, but the mother was in somatic mosaicism for the shared splice site mutation. This case illustrates the importance of defining the phenotype and considering somatic mosaicism in sporadic cases. It underlines the limitations of complete gene sequencing for the detection of mosaicism and has implication for genetic counseling. © 2000 by The American Society of Hematology.   CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: V. Bourdon, C. Philippe, T. Bienvenu, B. Koenig, M. Tardieu, J. Chelly, and P. Jonveaux Evidence of somatic mosaicism for a MECP2 mutation in females with Rett syndrome: diagnostic implications J. Med. Genet., December 1, 2001; 38(12): 867 - 871. [Full Text] [PDF]

	Copyright © 2000 by American Society of Hematology         Online ISSN: 1528-0020