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Updated: Jul 18, 2026
Platelet-Rich Plasma Lysate for Treatment of Eye Surface Diseases
Published on: August 2, 2022
Molecular characterization of an Italian patient with plasminogen deficiency and ligneous conjunctivitis
Simona M Siboni1, Marta Spreafico, Marzia Menegatti
1Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, University of Milan, Milan, Italy. simona.siboni@unimi.it
Abstract:
Plasminogen deficiency is a rare disease characterized by ligneous conjunctivitis and infections. We observed a 3-year-old Italian boy presenting ligneous conjunctivitis and low plasma levels of plasminogen. Twenty-three different mutations on the PLG gene have been reported to date, but mutation analysis had been troublesome for the presence of highly homologous genes. The aim of the study was to identify the underlying mutation avoiding coamplification of unwanted genetic materials using a long polymerase chain reaction strategy, instead of the previously reported subcloning methods. By this simple strategy the complete sequence analysis of PLG gene was performed, and a previously reported missense homozygous mutation (K19E) was identified.
Insights
This study identifies a genetic mutation causing plasminogen deficiency, a rare disease linked to ligneous conjunctivitis. A new PCR method simplifies genetic analysis for this condition.
Area of Science:
- Genetics
- Molecular Biology
- Ophthalmology
Background:
- Plasminogen deficiency is a rare genetic disorder.
- It is characterized by ligneous conjunctivitis and recurrent infections.
- Genetic analysis of the PLG gene is challenging due to homologous sequences.
Observation:
- A 3-year-old Italian boy with ligneous conjunctivitis and low plasminogen levels was studied.
- Previous mutation analysis methods were complex and prone to errors.
Findings:
- A long polymerase chain reaction (PCR) strategy was employed to overcome challenges in PLG gene mutation analysis.
- This method successfully avoided coamplification of homologous genes, enabling complete PLG gene sequencing.
- A known missense homozygous mutation (K19E) was identified in the patient.
Implications:
- This simplified PCR strategy facilitates accurate genetic diagnosis of plasminogen deficiency.
- Improved diagnostic methods can lead to better patient management and understanding of the disease.
- Further research into PLG gene mutations can uncover new therapeutic targets.
