title: Prenatal diagnosis of Herlitz junctional epidermolysis bullosa by amniocentesis.
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.
authors.affiliation: Department of Dermatology, Stanford University School of Medicine, CA 94305, USA.
authors.forename: M P
authors.initials: MP
authors.lastname: Marinkovich
authors.forename: G
authors.initials: G
authors.lastname: Meneguzzi
authors.forename: R E
authors.initials: RE
authors.lastname: Burgeson
authors.forename: C
authors.initials: C
authors.lastname: Blanchet-Bardon
authors.forename: K A
authors.initials: KA
authors.lastname: Holbrook
authors.forename: L T
authors.initials: LT
authors.lastname: Smith
authors.forename: A M
authors.initials: AM
authors.lastname: Christiano
authors.forename: J P
authors.initials: JP
authors.lastname: Ortonne
mesh_terms: D000649:Amniocentesis; D000653:Amniotic Fluid / Q000737:chemistry; D015153:Blotting, Western; D002448:Cell Adhesion; D015815:Cell Adhesion Molecules / Q000032:analysis* / Q000378:metabolism; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis*; D005260:Female; D006801:Humans; D015603:Keratinocytes / Q000378:metabolism; D011247:Pregnancy; D000097794:Kalinin
chemical_list: D015815:Cell Adhesion Molecules; D000097794:Kalinin