RAPID COMMUNICATION Homozygous Mutations in the Plasminogen Gene of Two Unrelated Girls With Ligneous Conjunctivitis

Ligneous conjunctivitis is a rare and unusual form of chronic homozygous G r A point mutation was identified in plasminogen exon 7 at position 780 leading to an amino acid pseudomembranous conjunctivitis that usually starts in early infancy. The disease may be associated with pseudoexchange (Arg216 r His). Her healthy sister and her healthy parents were heterozygous for this mutation. The second membranous lesions of other mucous membranes in the mouth, nasopharynx, trachea, and female genital tract. We patient revealed a homozygous G r A point mutation in plasminogen exon 15 at position 1924 which leads to a stopexamined two unrelated Turkish girls both suffering from ligneous conjunctivitis and occlusive hydrocephalus. Both codon (Trp597 r Stop). The healthy parents were shown to be heterozygous for this mutation. In addition, the father’s children exhibited a severe plasminogen deficiency. Genomic DNA from both patients as well as from clinically healthy second allele revealed another mutation in the same codon (Trp597 r Cys) (compound heterozygosity). In conclusion, cerfamily members were screened for mutations in the plasminogen gene by polymerase chain reaction, single-strand contain homozygous mutations in the plasminogen gene may cause ligneous conjunctivitis. formation polymorphism (SSCP) analysis, and DNA sequencing. In the first girl with ligneous conjunctivitis a q 1997 by The American Society of Hematology.