Absence of detectable alpha 6 integrin in pyloric atresia-junctional epidermolysis bullosa syndrome. Application for prenatal diagnosis in a family at risk for recurrence.
METHODS
The expression of basement membrane-related antigens was surveyed in 2 Japanese siblings who died of pyloric atresia-junctional epidermolysis bullosa syndrome in early infancy.


RESULTS
The skin specimens of both patients demonstrated complete absence of detectable alpha 6 integrin and markedly reduced amounts of beta 4 integrin. All the other subtypes of epidermolysis bullosa used as controls demonstrated normal intensity of expression of alpha 6 and beta 4 integrin. In contrast to the negative immunoreactivity of monoclonal antibody GB3 in gravis-Herlitz junctional epidermolysis bullosa (n = 4), a bright linear pattern along the epidermal basement, membrane was demonstrated in the skin of both siblings with pyloric atresia-junctional epidermolysis bullosa syndrome. Based on these data, a monoclonal antibody against alpha 6 integrin was successfully used as a prenatal diagnostic probe for a skin biopsy specimen from a fetus at risk for pyloric atresia-junctional epidermolysis bullosa syndrome in this family.


CONCLUSIONS
The absence of detectable alpha 6 integrin, but not beta 4 integrin, in these cases raises the possibility that alpha 6 integrin or its ligands are responsible for the pyloric atresia-junctional epidermolysis bullosa syndrome phenotype seen in this family.
Shimizu
H
H
Department of Dermatology, Keio University School of Medicine, Tokyo, Japan.
Suzumori
K
K
Hatta
N
N
Nishikawa
T
T
D015703:Antigens, CD / Q000096:biosynthesis*; D016109:Epidermolysis Bullosa, Junctional / Q000175:diagnosis* / Q000235:genetics / Q000378:metabolism* / Q000473:pathology; D005260:Female; D006801:Humans; D039503:Integrin alpha6; D016023:Integrins / Q000096:biosynthesis*; D011247:Pregnancy; D011296:Prenatal Diagnosis; D011708:Pylorus / Q000002:abnormalities* / Q000378:metabolism*; D012307:Risk Factors; D013577:Syndrome
D015703:Antigens, CD; D039503:Integrin alpha6; D016023:Integrins