Article
Mutations in fibrillin-1 cause congenital scleroderma: stiff skin syndrome.
Science translational medicine - 17 Mar 2010
Loeys B L, Gerber E E, Riegert-Johnson D, Iqbal S, Whiteman P, McConnell V, Chillakuri C R, Macaya D, Coucke P J, De Paepe A, Judge D P, Wigley F, Davis E C, Mardon H J, Handford P, Keene D R, Sakai L Y, Dietz H C
Abstract excerpt
The predisposition for scleroderma, defined as fibrosis and hardening of the skin, is poorly understood. We report that stiff skin syndrome (SSS), an autosomal dominant congenital form of scleroderma, is caused by mutations in the sole Arg-Gly-Asp sequence-encoding domain of fibrillin-1 that mediates integrin binding. Ordered polymers of fibrillin-1 (termed microfibrils) initiate elastic fiber assembly and bind...
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