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Blood, 1 November 2006, Vol. 108, No. 9, pp. 3021-3026. Prepublished online as a Blood First Edition Paper on July 18, 2006; DOI 10.1182/blood-2006-04-017350. This Article Full Text Full Text (PDF) Supplemental Table All Versions of this Article: blood-2006-04-017350v1 108/9/3021    most recent 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 Tefs, K. Articles by Schuster, V. Search for Related Content PubMed PubMed Citation Articles by Tefs, K. Articles by Schuster, V. Related Collections Hemostasis, Thrombosis, and Vascular Biology Clinical Trials and Observations Social Bookmarking                   What's this?  Previous Article  |  Table of Contents  |  Next Article  HEMOSTASIS, THROMBOSIS, AND VASCULAR BIOLOGY Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients Katrin Tefs, Maria Gueorguieva, Jürgen Klammt, Carl M. Allen, Dilek Aktas, Fehim Y. Anlar, Sultan D. Aydogdu, Deborah Brown, Ergin Ciftci, Patricia Contarini, Carl-Erik Dempfle, Miroslav Dostalek, Susanne Eisert, Aslan Gökbuget, Ömer Günhan, Ahmed A. Hidayat, Boris Hügle, Mete Isikoglu, Murat Irkec, Shelagh K. Joss, Sonja Klebe, Carolin Kneppo, Idil Kurtulus, Rakesh P. Mehta, Kemal Örnek, Reinhard Schneppenheim, Stefan Seregard, Elizabeth Sweeney, Stephanie Turtschi, Gabor Veres, Petra Zeitler, Maike Ziegler, and Volker Schuster From the Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany; the College of Dentistry, The Ohio State University, Columbus, OH; the Department of Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey; Ondokuz Mayis University, Faculty of Medicine, Samsun, Turkey; the Department of Pediatrics, Osmangazi University, Faculty of Medicine, Eskipehir, Turkey; the University of Texas, Health Science Center, Houston, TX; Ankara University, Faculty of Medicine, Department of Pediatrics, Ankara, Turkey; the Department of Ophthalmology, Hospital Municipal Miguel Couto, Rio de Janeiro, Brazil; 1st Department of Medicine, University Hospital of Mannheim, Mannheim, Germany; the Centre for Functional Disorders of Vision, City Hospital, Litomysl, Czech Republic; the Childrens Hospital, University of Düsseldorf, Düsseldorf, Germany; the Department of Periodontology, Istanbul University, Istanbul, Turkey; Gülhane Military Medical Academy, Department of Pathology, Ankara, Turkey; the Department of Neuropathology and Ophthalmic Pathology, Armed Forces Institute of Pathology, Washington, DC; Antalya IVF Center, Antalya, Turkey; the Department of Ophthalmology, Hacettepe University, Faculty of Medicine, Ankara, Turkey; the Department of Clinical Genetics, St James's University Hospital, Leeds, United Kingdom; the Department of Anatomical Pathology, Flinders Medical Center, Bedford Park, SA, Australia; the Children's Hospital Heidelberg, Heidelberg, Germany; the Department of Medicine, Indiana University School of Medicine, Indianapolis, IN; the Department of Ophthalmology, Ankara University School of Medicine, Ankara, Turkey; the Department of Pediatric Hematology and Oncology, Children's Hospital, University of Hamburg, Hamburg, Germany; the Department of Vitreoretinal Diseases, St Erik's Eye Hospital, Stockholm, Sweden; the Royal Liverpool Children's Hospital, Liverpool, United Kingdom; the Department of Ophthalmology, University of Basel, Basel, Switzerland; the 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary; and the Children's Hospital, University of Würzburg, Würzburg, Germany. Severe type I plasminogen (PLG) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes that may be life threatening. Here we report clinical manifestations, PLG plasma levels, and molecular genetic status of the PLG gene of 50 patients. The most common clinical manifestations among these patients were ligneous conjunctivitis (80%) and ligneous gingivitis (34%), followed by less common manifestations such as ligneous vaginitis (8%), and involvement of the respiratory tract (16%), the ears (14%), or the gastrointestinal tract (2%). Four patients showed congenital occlusive hydrocephalus, 2 with Dandy-Walker malformation of cerebellum. Venous thrombosis was not observed. In all patients, plasma PLG levels were markedly reduced. In 38 patients, distinct mutations in the PLG gene were identified. The most common genetic alteration was a K19E mutation found in 34% of patients. Transient in vitro expression of PLG mutants R134K, delK212, R216H, P285T, P285A, T319_N320insN, and R776H in transfected COS-7 cells revealed significantly impaired secretion and increased degradation of PLG. These results demonstrate impaired secretion of mutant PLG proteins as a common molecular pathomechanism in type I PLG deficiency. CiteULike    Connotea    Del.icio.us    Digg    Reddit    Technorati    What's this? This article has been cited by other articles: K. Tefs, L. Kobelt, M. Ziegler, B. Hugle, and V. Schuster Difficulties in Mutation Screening of the Plasminogen (PLG) Gene in Patients With Ligneous Conjunctivitis and Severe Hypoplasminogenemia Arch Ophthalmol, September 1, 2007; 125(9): 1303 - 1303. [Full Text] [PDF]

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