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Molecular characterization of an Italian patient with plasminogen deficiency and ligneous conjunctivitis

Siboni, Simona M; Spreafico, Marta; Menegatti, Marzia; Martinelli, Ida; Peyvandi, Flora

Blood Coagulation & Fibrinolysis: January 2007 - Volume 18 - Issue 1 - p 81–84
doi: 10.1097/MBC.0b013e3280124f17
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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.

Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, University of Milan and Department of Medicine and Medical Specialities, IRCCS, Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Milan, Italy

Received 28 February, 2006

Revised 18 October, 2006

Accepted 21 October, 2006

Correspondence and requests for reprints to Dr Simona Maria Siboni, Angelo Bianchi Bonomi Haemophilia and Thrombosis Centre, University of Milan and Department of Medicine and Medical Specialties, IRCCS, Maggiore Hospital, Mangiagalli and Regina Elena Foundation, Via Pace 9, 20122 Milan, Italy Tel: +39 2 55035414; fax: +39 2 54100125; e-mail: simona.siboni@unimi.it

Sponsorship: This work was sponsored by Fondazione Italo Monzino, Fondazione CARIPLO, NovoNordisk Italy, and Telethon (Grant number GGP030261).

© 2007 Lippincott Williams & Wilkins, Inc.