title: Prenatal diagnosis in a family with severe type I plasminogen deficiency, ligneous conjunctivitis and congenital hydrocephalus.
abstract: Severe type I plasminogen deficiency may cause severe ligneous conjunctivitis, a rare and unusual form of chronic pseudo-membranous conjunctivitis that usually starts in early infancy, but also pseudo-membranous lesions of other mucous membranes in the mouth, nasopharynx, trachea and female genital tract, and in rare cases congenital occlusive hydrocephalus. The index patient, the daughter of a consanguineous marriage, had suffered from severe ligneous conjunctivitis and had died from decompensated congenital hydrocephalus despite numerous shunt revisions. She was found to be homozygous for a non-sense mutation in exon 15 of the plasminogen gene (Trp597->Stop). In her next pregnancy, the mother asked for prenatal diagnosis of the plasminogen deficiency. Chorionic villus biopsy was performed at 12 weeks of gestation. DNA analysis of the plasminogen gene by PCR and single-strand conformation polymorphism (SSCP) revealed that the fetus exhibited an identical heterozygous band pattern as observed in the healthy mother. Therefore, the fetus was heterozygous for the Trp597->Stop mutation in plasminogen exon 15. In addition, the fetus was found to be male by cytogenetic analysis and by multiplex PCR analysis using two polymorphic X-chromosomal markers (DXS424, HPRT). These findings excluded the possibility of contamination by maternal DNA. It was concluded that the fetus was not at risk for ligneous conjunctivitis and its associated complications. After the birth of a healthy boy, plasminogen functional activity was shown to be 38 per cent. DNA analysis confirmed prenatal molecular genetic results.
authors.affiliation: Children's Hospital, University of Würzburg, Germany. Schuster@mail.uni-wuerzburg.de
authors.forename: V
authors.initials: V
authors.lastname: Schuster
authors.forename: S
authors.initials: S
authors.lastname: Seidenspinner
authors.forename: C
authors.initials: C
authors.lastname: Müller
authors.forename: A
authors.initials: A
authors.lastname: Rempen
mesh_terms: D000328:Adult; D015193:Chorionic Villi Sampling; D002869:Chromosome Aberrations; D025063:Chromosome Disorders; D002908:Chronic Disease; D003231:Conjunctivitis / Q000175:diagnosis* / Q000235:genetics; D003241:Consanguinity; D017931:DNA Primers; D005260:Female; D005315:Fetal Diseases / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D006849:Hydrocephalus / Q000175:diagnosis* / Q000235:genetics; D007231:Infant, Newborn; D008297:Male; D010375:Pedigree; D010958:Plasminogen / Q000172:deficiency* / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011247:Pregnancy; D011296:Prenatal Diagnosis
chemical_list: D017931:DNA Primers; D010958:Plasminogen