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