Homozygous and compound-heterozygous type I plasminogen deficiency is a common cause of ligneous conjunctivitis.
Severe type I plasminogen deficiency has been recently linked to ligneous conjunctivitis, a rare and uncommon form of chronic conjunctivitis. In this study, eight unrelated ligneous conjunctivitis patients living in different parts of the world were examined. All affected subjects from which plasma was available displayed absent or markedly reduced plasminogen antigen and plasminogen functional activity. Molecular genetic studies of seven patients identified a Lys19-->Glu mutation in two boys in a homozygous state, and in two girls in a compound-heterozygous state in which the second plasminogen gene carried a missense (Arg134-->Lys) and a nonsense mutation (Cys133--> Stop), respectively. A fifth patient was shown to be homozygous for a frameshift mutation in plasminogen exon 14 (Gly565ins-G). In two unrelated subjects with ligneous conjunctivitis no mutations in the plasminogen gene were identified. Our results suggest that the Lys19-->Glu mutation is the most prevalent mutation in the plasminogen gene of patients with ligneous conjunctivitis.
Schuster
V
V
Children's Hospital, University of Leipzig, Germany. schv@medizin.uni-leipzig.de
Zeitler
P
P
Seregard
S
S
Ozcelik
U
U
Anadol
D
D
Luchtman-Jones
L
L
Meire
F
F
Mingers
A M
AM
Schambeck
C
C
Kreth
H W
HW
D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D003231:Conjunctivitis / Q000201:enzymology / Q000209:etiology*; D004252:DNA Mutational Analysis; D005192:Family Health; D005260:Female; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics; D009679:Nuclear Family; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics*
D010958:Plasminogen