title: Congenital focal segmental glomerulosclerosis associated with beta4 integrin mutation and epidermolysis bullosa.
abstract: We report the occurrence of congenital nephrotic-range proteinuria secondary to focal segmental glomerulosclerosis in an infant with epidermolysis bullosa and pyloric atresia. A homozygous missense mutation, R1281W, in exon 31 of the beta4 integrin gene, ITGB4, was identified. By immunofluorescence, beta4 integrin expression was reduced in both dermal keratinocytes and glomerular podocytes. This is the first demonstration of beta4 integrin expression in human glomeruli. We postulate a role for altered beta4 integrin function in the mediation of the glomerular permeability defect.
authors.affiliation: Departments of Pathology and Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY, USA.
authors.forename: N
authors.initials: N
authors.lastname: Kambham
authors.forename: N
authors.initials: N
authors.lastname: Tanji
authors.forename: R L
authors.initials: RL
authors.lastname: Seigle
authors.forename: G S
authors.initials: GS
authors.lastname: Markowitz
authors.forename: L
authors.initials: L
authors.lastname: Pulkkinen
authors.forename: J
authors.initials: J
authors.lastname: Uitto
authors.forename: V D
authors.initials: VD
authors.lastname: D'Agati
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D020405:Dermis / Q000737:chemistry; D016109:Epidermolysis Bullosa, Junctional / Q000150:complications*; D005091:Exons / Q000235:genetics; D005455:Fluorescent Antibody Technique; D005923:Glomerulosclerosis, Focal Segmental / Q000150:complications / Q000151:congenital* / Q000235:genetics* / Q000473:pathology; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D039663:Integrin beta4; D016023:Integrins / Q000032:analysis / Q000235:genetics*; D007678:Kidney Glomerulus / Q000737:chemistry / Q000473:pathology; D008297:Male; D020125:Mutation, Missense; D011707:Pyloric Stenosis / Q000150:complications / Q000151:congenital
chemical_list: D015703:Antigens, CD; D039663:Integrin beta4; D016023:Integrins