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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 (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 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. Social Bookmarking                   What's this?  Previous Article  |  Next Article  Submitted December 14, 2005 Accepted June 7, 2006 Molecular and clinical spectrum of type I plasminogen deficiency: a series of 50 patients Katrin Tefs*, Maria Gueorguieva, Jurgen 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 Gokbuget, Omer Gunhan, Ahmed A Hidayat, Boris Hugle, Mete Isikoglu, Murat Irkec, Shelagh K Joss, Sonja Klebe, Carolin Kneppo, Idil Kurtulus, Rakesh P Mehta, Kemal Ornek, Reinhard Schneppenheim, Stefan Seregard, Elizabeth Sweeney, Stephanie Turtschi, Gabor Veres, Petra Zeitler, Maike Ziegler, and Volker Schuster Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany College of Dentistry, The Ohio State University, Columbus, OH, USA Department of Genetics, Hacettepe University, Faculty of Medicine, Ankara, Turkey Ondokuz Mayis University, Faculty of Medicine, Samsun, Turkey Department of Pediatrics, Osmangazi University, Faculty of Medicine, Eskipehir, Turkey University of Texas, Health Science Center, Houston, TX, USA Ankara University, Faculty of Medicine, Department of Pediatrics, Ankara, Turkey Department of Ophthalmology, Hospital Municipal Miguel Couto, Rio de Janeiro, Brazil Department of Medicine, University Hospital of Mannheim, Mannheim, Germany Centre for Functional Disorders of Vision, City Hospital, Litomysl, Czech Republic Childrens Hospital, University of Duesseldorf, Duesseldorf, Germany Department of Periodontology, Istanbul University, Istanbul, Turkey Guelhane Military Medical Academy, Department of Pathology, Ankara, Turkey Department of Neuropathology and Ophthalmic Pathology, Armed Forces Institute of Pathology, Washin Antalya IVF Center, Antalya, Turkey Department of Ophthalmology, Hacettepe University, Faculty of Medicine, Ankara, Turkey Department of Clinical Genetics, St James's University Hospital, Leeds, UK Department of Anatomical Pathology, Flinders Medical Center, Bedford Park, Australia Children's Hospital Heidelberg, Heidelberg, Germany Department of Medicine, Indiana University School of Medicine, Indianapolis, IN, USA Department of Ophthalmology, Topraklik University School of Medicine, Topraklik, Turkey Department of Pediatric Hematology and Oncology, Children's Hospital, University of Hamburg, Hambu Department of Vitreoretinal Diseases, St Erik's Eye Hospital, Stockholm, Sweden Royal Liverpool Children's Hospital, Liverpool, UK Department of Ophthalmology, University of Basel, Basel, Switzerland 1st Department of Pediatrics, Semmelweis University, Budapest, Hungary Children's Hospital, University of Wurzburg, Wurzburg, Germany * Corresponding author; email: katrin.tefs{at}medizin.uni-leipzig.de. Severe type I plasminogen (plg) deficiency has been causally linked to a rare chronic inflammatory disease of the mucous membranes which 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%), involvement of the respiratory tract (16%), the ears (14%), or the gastrointestinal tract (2%). Four patients showed congenital occlusive hydrocephalus, two 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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