PMID: 8606881Nov 1, 1995Paper

Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis

Prenatal Diagnosis
M P MarinkovichJ P Ortonne

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 physio...Continue Reading

References

Nov 1, 1992·The Journal of Cell Biology·M P MarinkovichR E Burgeson
May 1, 1991·The Journal of Cell Biology·D R KeeneR E Burgeson
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Citations

Nov 13, 2002·Mutation Research·Thierry Magnaldo, Alain Sarasin
Oct 31, 2000·Microscopy Research and Technique·K A McGowan, M P Marinkovich
Jul 14, 2001·Journal of the European Academy of Dermatology and Venereology : JEADV·R HauschildL Bruckner-Tuderman
Apr 1, 1997·Prenatal Diagnosis·A M ChristianoJ Uitto

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