PMID- 10233898
OWN - NLM
STAT- MEDLINE
DCOM- 19990610
LR  - 20210216
IS  - 0006-4971 (Print)
IS  - 0006-4971 (Linking)
VI  - 93
IP  - 10
DP  - 1999 May 15
TI  - Compound-heterozygous mutations in the plasminogen gene predispose to the
      development of ligneous conjunctivitis.
PG  - 3457-66
AB  - Homozygous type I plasminogen deficiency has been identified as a cause of
      ligneous conjunctivitis. In this study, 5 additional patients with ligneous
      conjunctivitis are examined. Three unrelated patients (1 boy, 1 elderly woman,
      and 1 man) had plasminogen antigen levels of less than 0.4, less than 0.4, and
      2.4 mg/dL, respectively, but had plasminogen functional residual activity of 17%,
      18%, and 17%, respectively. These subjects were compound-heterozygotes for
      different missense mutations in the plasminogen gene: Lys19 --> Glu/Arg513 -->
      His, Lys19 --> Glu/Arg216 --> His, and Lys19 --> Glu/Leu128 --> Pro,
      respectively. The other 2 patients, a 14-year-old boy and his 19-year-old sister,
      who both presented with a severe course of the disease, exhibited plasminogen
      antigen and functional activity levels below the detection limit (<0.4 mg/dL and 
      <5%, respectively). These subjects were compound-heterozygotes for a deletion
      mutation (del Lys212) and a splice site mutation in intron Q (Ex17 + 1del-g) in
      the plasminogen gene. These findings show that certain compound-heterozygous
      mutations in the plasminogen gene may be associated with ligneous conjunctivitis.
      Our findings also suggest that the severity of clinical symptoms of ligneous
      conjunctivitis and its associated complications may depend on the amount of
      plasminogen functional residual activity.
FAU - Schuster, V
AU  - Schuster V
AD  - Children's Hospital and the Central Laboratory, University of Wurzburg, Wurzburg,
      Germany. Schuster@mail.uni-wuerzburg.de
FAU - Seidenspinner, S
AU  - Seidenspinner S
FAU - Zeitler, P
AU  - Zeitler P
FAU - Escher, C
AU  - Escher C
FAU - Pleyer, U
AU  - Pleyer U
FAU - Bernauer, W
AU  - Bernauer W
FAU - Stiehm, E R
AU  - Stiehm ER
FAU - Isenberg, S
AU  - Isenberg S
FAU - Seregard, S
AU  - Seregard S
FAU - Olsson, T
AU  - Olsson T
FAU - Mingers, A M
AU  - Mingers AM
FAU - Schambeck, C
AU  - Schambeck C
FAU - Kreth, H W
AU  - Kreth HW
LA  - eng
PT  - Case Reports
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - United States
TA  - Blood
JT  - Blood
JID - 7603509
RN  - 9001-91-6 (Plasminogen)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Alleles
MH  - Amino Acid Substitution
MH  - Blood Coagulation Tests
MH  - Child, Preschool
MH  - Conjunctivitis/blood/*genetics/pathology
MH  - Exons
MH  - Female
MH  - *Genetic Predisposition to Disease
MH  - Heterozygote
MH  - Humans
MH  - Male
MH  - *Mutation
MH  - Mutation, Missense
MH  - Pedigree
MH  - Plasminogen/*genetics
MH  - Sequence Deletion
EDAT- 1999/05/11 00:00
MHDA- 1999/05/11 00:01
CRDT- 1999/05/11 00:00
PHST- 1999/05/11 00:00 [pubmed]
PHST- 1999/05/11 00:01 [medline]
PHST- 1999/05/11 00:00 [entrez]
AID - S0006-4971(20)59576-1 [pii]
PST - ppublish
SO  - Blood. 1999 May 15;93(10):3457-66.