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- Title
Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis.
- Authors
Marinkovich, M. Peter; Meneguzzi, Guerrino; Burgeson, Robert E.; Blanchet-Bardon, Claudine; Holbrook, Karen A.; Smith, Lynne T.; Christiano, Angela M.; Ortonne, Jean-Paul; Marinkovich, M P; Meneguzzi, G; Burgeson, R E; Blanchet-Bardon, C; Holbrook, K A; Smith, L T; Christiano, A M; Ortonne, J P
- 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.
- Publication
Prenatal Diagnosis, 1995, Vol 15, Issue 11, p1027
- ISSN
0197-3851
- Publication type
journal article
- DOI
10.1002/pd.1970151107