Mutations of the plasminogen Gene Associated with Ligneous Conjunctivitis and/or Peridontitis or Mild Plasminogen Deficiency

Abstract

Abstract: : Purpose:To report the clinical, hemostasiological and molecular genetic features in 12 patients with ligneous conjunctivitis and/or peridontitis and in 23 patients with mild plasminogen deficiency. Methods:Genomic DNA was extracted from peripheral blood, amplified by PCR and analysed for mutations in the plasminogen gene by single-strand confirmation polymorphism and direct sequencing. Plasminogen functional activity in citrated plasma was determined using chromogenic assays. Results:The most common genetic defect in type I plasminogen deficiency was the missense mutation Lys19Glu. The 23 patients without ligneous disease featured diverse heterozygous mutations of the plasminogen gene and slightly reduced plasminogen activity. Only one of these patients had a deep vein thrombosis. The 12 patients with ligneous conjunctivitis and/or peridontitis had various homozygous or compound-heterozygous mutations of the plasminogen gene. None of these patients had a history of deep vein thrombosis, but all had markedly reduced plasminogen activity. Conclusion:Homozygous or compound-heterozygous type I plasminogen deficiency is the most common cause of ligneous conjunctivitis and/or peridontitis. Plasminogen deficiency in inself appears not to be a risk factor for deep vein thromosis.

Keywords: 480 mutations • 366 conjunctivitis • 476 molecular biology