Homozygous and Compound-heterozygous Type I Plasminogen Deficiency Is a Common Cause of Ligneous Conjunctivitis

Volker Schuster; Petra Zeitler; Stefan Seregard; Ugur Ozcelik; Deniz Anadol; Lori Luchtman-Jones; Francoise Meire; Anne-Marie Mingers; Christian Schambeck; Hans Wolfgang Kreth

doi:10.1055/s-0037-1615955

Thrombosis and Haemostasis, Table of Contents

Thromb Haemost 2001; 85(06): 1004-1010
DOI: 10.1055/s-0037-1615955

Review Article

Schattauer GmbH

Homozygous and Compound-heterozygous Type I Plasminogen Deficiency Is a Common Cause of Ligneous Conjunctivitis

Volker Schuster

¹Children’s Hospital, University of Leipzig, Germany

,

Petra Zeitler

²Children’s Hospital, Stockholm, Sweden

,

Stefan Seregard

³St. Erik’s Eye Hospital, Stockholm, Sweden

,

Ugur Ozcelik

⁴Dept. of Pediatrics, Chest disease Unit and Hacettepe University Faculty of Medicine, Ankara, Turkey

,

Deniz Anadol

⁴Dept. of Pediatrics, Chest disease Unit and Hacettepe University Faculty of Medicine, Ankara, Turkey

,

Lori Luchtman-Jones

⁵St. Louis Children’s Hospital, Washington University School of Medicine, St. Louis, Missouri, USA

,

Francoise Meire

⁶Dept. of Ophthalmology, Gent University Hospital, Belgium

,

Anne-Marie Mingers

²Children’s Hospital, Stockholm, Sweden

,

Christian Schambeck

⁷Central Laboratory, University of Würzburg, Würzburg, Germany

,

Hans Wolfgang Kreth

²Children’s Hospital, Stockholm, Sweden

› Author Affiliations

Abstract

Summary

Severe type I plasminogen deficiency has been recently linked to ligneous conjunctivitis, a rare and uncommon form of chronic conjunctivitis. In this study, eight unrelated ligneous conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys₁₉ → Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg₁₃₄ → Lys) and a nonsense mutation (Cys₁₃₃ → Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly₅₆₅ins-G). In two unrelated subjects with ligneous conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys₁₉ → Glu mutation is the most prevalent mutation in the plasminogen gene of patients with ligneous conjunctivitis.

Key words

Ligneous conjunctivitis - plasminogen deficiency - plasminogen gene mutations

Full Text

References

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