Integrin α3 mutations with kidney, lung, and skin disease

N Engl J Med. 2012 Apr 19;366(16):1508-14. doi: 10.1056/NEJMoa1110813.


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.

Publication types

  • Case Reports
  • Research Support, N.I.H., Extramural
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Epidermolysis Bullosa / genetics*
  • Epidermolysis Bullosa / immunology
  • Epidermolysis Bullosa / pathology
  • Fatal Outcome
  • Female
  • Homozygote
  • Humans
  • Infant, Newborn
  • Integrin alpha3 / genetics*
  • Kidney / pathology
  • Lung / diagnostic imaging
  • Lung / pathology
  • Lung Diseases / diagnosis
  • Lung Diseases / genetics*
  • Male
  • Mutation
  • Nephrotic Syndrome / congenital
  • Nephrotic Syndrome / genetics*
  • Nephrotic Syndrome / pathology
  • Radiography
  • Skin / immunology
  • Skin / pathology


  • Integrin alpha3