title: Integrin α3 mutations with kidney, lung, and skin disease.
abstract: Integrin α(3) is a transmembrane integrin receptor subunit that mediates signals between the cells and their microenvironment. We identified three patients with homozygous mutations in the integrin α(3) gene that were associated with disrupted basement-membrane structures and compromised barrier functions in kidney, lung, and skin. The patients had a multiorgan disorder that included congenital nephrotic syndrome, interstitial lung disease, and epidermolysis bullosa. The renal and respiratory features predominated, and the lung involvement accounted for the lethal course of the disease. Although skin fragility was mild, it provided clues to the diagnosis.
authors.affiliation: Department of Dermatology, University Freiburg Medical Center, Freiburg, Germany.
authors.forename: Cristina
authors.initials: C
authors.lastname: Has
authors.forename: Giuseppina
authors.initials: G
authors.lastname: Spartà
authors.forename: Dimitra
authors.initials: D
authors.lastname: Kiritsi
authors.forename: Lisa
authors.initials: L
authors.lastname: Weibel
authors.forename: Alexander
authors.initials: A
authors.lastname: Moeller
authors.forename: Virginia
authors.initials: V
authors.lastname: Vega-Warner
authors.forename: Aoife
authors.initials: A
authors.lastname: Waters
authors.forename: Yinghong
authors.initials: Y
authors.lastname: He
authors.forename: Yair
authors.initials: Y
authors.lastname: Anikster
authors.forename: Philipp
authors.initials: P
authors.lastname: Esser
authors.forename: Beate K
authors.initials: BK
authors.lastname: Straub
authors.forename: Ingrid
authors.initials: I
authors.lastname: Hausser
authors.forename: Detlef
authors.initials: D
authors.lastname: Bockenhauer
authors.forename: Benjamin
authors.initials: B
authors.lastname: Dekel
authors.forename: Friedhelm
authors.initials: F
authors.lastname: Hildebrandt
authors.forename: Leena
authors.initials: L
authors.lastname: Bruckner-Tuderman
authors.forename: Guido F
authors.initials: GF
authors.lastname: Laube
mesh_terms: D004820:Epidermolysis Bullosa / Q000235:genetics* / Q000276:immunology / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D006720:Homozygote; D006801:Humans; D007231:Infant, Newborn; D039422:Integrin alpha3 / Q000235:genetics*; D007668:Kidney / Q000473:pathology; D008168:Lung / Q000000981:diagnostic imaging / Q000473:pathology; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics*; D008297:Male; D009154:Mutation; D009404:Nephrotic Syndrome / Q000151:congenital / Q000235:genetics* / Q000473:pathology; D011859:Radiography; D012867:Skin / Q000276:immunology / Q000473:pathology
chemical_list: D039422:Integrin alpha3