Prenatal diagnosis of herlitz junctional epidermolysis bullosa by amniocentesis

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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.

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