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Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis
Authors:M. Peter Marinkovich MD  Guerrino Meneguzzi  Robert E. Burgeson  Claudine Blanchet-Bardon  Karen A. Holbrook  Lynne T. Smith  Angela M. Christiano  Jean-Paul Ortonne
Affiliation:1. Laboratoire de Recherches Dermatologiques, University of Nice-Sophia Antipolis, Nice, France;2. Departments of Dermatology, Cell Biology, and Anatomy, Harvard Medical School, Boston, MA 02129, U.S.A.;3. Department of Dermatology, Hopital Saint Louis, Paris, France;4. Department of Graduate Studies, University of Florida, Gainsville, FL 32166, U.S.A.;5. Department of Biological Structure, University of Washington, Seattle, WA 98195, U.S.A.;6. Department of Dermatology, Thomas Jefferson University, Philadelphia, PA 19107, U.S.A.
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 secondtrimester 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 β2 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.
Keywords:laminin  kalinin  nicein  attachment  keratinocyte
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