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Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

Authors :
Lynne T. Smith
M. Peter Marinkovich
Robert E. Burgeson
Jean-Paul Ortonne
Claudine Blanchet-Bardon
Guerrino Meneguzzi
Karen A. Holbrook
Angela M. Christiano
Source :
Prenatal Diagnosis. 15:1027-1034
Publication Year :
1995
Publisher :
Wiley, 1995.

Abstract

Herlitz junctional epidermolysis bullosa (HJEB) is a severe blistering disorder which usually results in death during infancy. We have previously shown that the anchoring filament protein laminin-5 (kalinin/nicein), which mediates keratinocyte attachment and dermal-epidermal cohesion, is abnormally expressed in individuals with HJEB. Laminin-5 was detected by Western blot analysis in amniotic fluid from 44 consecutive normal second-trimester control pregnancies, but was undetectable in second-trimester amniotic fluid from four pregnancies with fetuses affected by HJEB. In one case of severe non-Herlitz JEB, laminin-5 was detected in both amniotic fluid and skin. In human amniotic fluid, the laminin-5 a3 subunit was processed to a major 165 kD species and a minor 145 kD species and the beta 2 subunit was partially processed to 105 kD. Although laminin-5 was covalently associated with laminin-6 (K-laminin) in amniotic membrane, no covalent interaction was detected in amniotic fluid. Laminin-5 from amniotic fluid strongly supported keratinocyte attachment. These results suggest that Western blot analysis of second-trimester amniotic fluid is useful in determining the prenatal diagnosis of HJEB and that laminin-5 may serve a physiologically important function in amniotic fluid.

Details

ISSN :
10970223 and 01973851
Volume :
15
Database :
OpenAIRE
Journal :
Prenatal Diagnosis
Accession number :
edsair.doi.dedup.....09eeeec1b872a42de6a03c0afc14ee0a