Integrin α3 mutations with kidney, lung, and skin disease

Cristina Has, Giuseppina Spartà*, Dimitra Kiritsi, Lisa Weibel, Alexander Moeller, Virginia Vega-Warner, Aoife Waters, Yinghong He, Yair Anikster, Philipp Esser, Beate K. Straub, Ingrid Hausser, Detlef Bockenhauer, Benjamin Dekel, Friedhelm Hildebrandt, Leena Bruckner-Tuderman, Guido F. Laube

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

194 Scopus citations

Abstract

Integrin α3 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 α3 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.

Original languageEnglish
Pages (from-to)1508-1514
Number of pages7
JournalNew England Journal of Medicine
Volume366
Issue number16
DOIs
StatePublished - 19 Apr 2012

Funding

FundersFunder number
Medical Research CouncilG0802138

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