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September 2007

Difficulties in Mutation Screening of the Plasminogen (PLG) Gene in Patients With Ligneous Conjunctivitis and Severe Hypoplasminogenemia—Reply

Arch Ophthalmol. 2007;125(9):1303. doi:10.1001/archopht.125.9.1303-b

In reply

After performing the studies suggested by Dr Tefs and colleagues, we have concluded that their assessment is correct and that the patient recently described by our group1 does not have the 14–base pair deletion in exon 5 of the PLG gene. A rescreening of exon 5 of the PLG gene with the primers described by Azuma et al2 (upstream: 5′-CGG AAT TCA TGT GGT GTC TTG TGA AAG AC-3′; downstream: 5′-CGG GAT CCG GGA CAA CTT TAC AGT AGA TGA ACA C-3′) using an annealing temperature of 65°C revealed no additional changes in this exon. We were not able to find additional mutations in the PLG gene sequence that can account for the severe type I plasminogen deficiency in this patient. At the time we submitted the manuscript for review and publication, we were unaware of the article by Sartori et al3 and of the troubles in the mutation screening of the PLG gene. In conclusion, we retract our previous report and the PLG mutation status of the patient remains unclear, as stated in the letter by Dr Tefs and colleagues.

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