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

doi:10.1056/NEJMoa1110813

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

Pediatrics

Research output: Contribution to journal › Article › peer-review

210 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 language	English
Pages (from-to)	1508-1514
Number of pages	7
Journal	New England Journal of Medicine
Volume	366
Issue number	16
DOIs	https://doi.org/10.1056/NEJMoa1110813
State	Published - 19 Apr 2012

Funding

Funders	Funder number
Medical Research Council	G0802138

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Access to Document

10.1056/NEJMoa1110813

Cite this

Has, C., Spartà, G., Kiritsi, D., Weibel, L., Moeller, A., Vega-Warner, V., Waters, A., He, Y., Anikster, Y., Esser, P., Straub, B. K., Hausser, I., Bockenhauer, D., Dekel, B., Hildebrandt, F., Bruckner-Tuderman, L., & Laube, G. F. (2012). Integrin α₃ mutations with kidney, lung, and skin disease. New England Journal of Medicine, 366(16), 1508-1514. https://doi.org/10.1056/NEJMoa1110813

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Has, C, Spartà, G, Kiritsi, D, Weibel, L, Moeller, A, Vega-Warner, V, Waters, A, He, Y, Anikster, Y, Esser, P, Straub, BK, Hausser, I, Bockenhauer, D, Dekel, B, Hildebrandt, F, Bruckner-Tuderman, L & Laube, GF 2012, 'Integrin α₃ mutations with kidney, lung, and skin disease', New England Journal of Medicine, vol. 366, no. 16, pp. 1508-1514. https://doi.org/10.1056/NEJMoa1110813

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AU - Spartà, Giuseppina

AU - Kiritsi, Dimitra

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AU - Moeller, Alexander

AU - Vega-Warner, Virginia

AU - Waters, Aoife

AU - He, Yinghong

AU - Anikster, Yair

AU - Esser, Philipp

AU - Straub, Beate K.

AU - Hausser, Ingrid

AU - Bockenhauer, Detlef

AU - Dekel, Benjamin

AU - Hildebrandt, Friedhelm

AU - Bruckner-Tuderman, Leena

AU - Laube, Guido F.

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