Article
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3.
Human mutation - 1 May 2018
Schepers Dorien, Tortora Giada, Morisaki Hiroko, MacCarrick Gretchen, Lindsay Mark, Liang David, Mehta Sarju G, Hague Jennifer, Verhagen Judith, van de Laar Ingrid, Wessels Marja, Detisch Yvonne, van Haelst Mieke, Baas Annette, Lichtenbelt Klaske, Braun Kees, van der Linde Denise, Roos-Hesselink Jolien, McGillivray George, Meester Josephina, Maystadt Isabelle, Coucke Paul, El-Khoury Elie, Parkash Sandhya, Diness Birgitte, Risom Lotte, Scurr Ingrid, Hilhorst-Hofstee Yvonne, Morisaki Takayuki, Richer Julie, Désir Julie, Kempers Marlies, Rideout Andrea L, Horne Gabrielle, Bennett Chris, Rahikkala Elisa, Vandeweyer Geert, Alaerts Maaike, Verstraeten Aline, Dietz Hal, Van Laer Lut, Loeys Bart
Abstract excerpt
The Loeys-Dietz syndrome (LDS) is a connective tissue disorder affecting the cardiovascular, skeletal, and ocular system. Most typically, LDS patients present with aortic aneurysms and arterial tortuosity, hypertelorism, and bifid/broad uvula or cleft palate. Initially, mutations in transforming growth factor-β (TGF-β) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-β...
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