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A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3

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  • Dorien Schepers
  • Giada Tortora
  • Hiroko Morisaki
  • Gretchen MacCarrick
  • Mark Lindsay
  • David Liang
  • Sarju G Mehta
  • Jennifer Hague
  • Judith Verhagen
  • Ingrid van de Laar
  • Marja Wessels
  • Yvonne Detisch
  • Mieke van Haelst
  • Annette Baas
  • Klaske Lichtenbelt
  • Kees Braun
  • Denise van der Linde
  • Jolien Roos-Hesselink
  • George McGillivray
  • Josephina Meester
  • Isabelle Maystadt
  • Paul Coucke
  • Elie El-Khoury
  • Sandhya Parkash
  • Birgitte Diness
  • Lotte Risom
  • Ingrid Scurr
  • Yvonne Hilhorst-Hofstee
  • Takayuki Morisaki
  • Julie Richer
  • Julie Désir
  • Marlies Kempers
  • Andrea L Rideout
  • Gabrielle Horne
  • Chris Bennett
  • Elisa Rahikkala
  • Geert Vandeweyer
  • Maaike Alaerts
  • Aline Verstraeten
  • Hal Dietz
  • Lut Van Laer
  • Bart Loeys
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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 signaling. More recently, TGF-β ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-β pathway, SMAD2 and SMAD3, were shown to be involved in LDS. This emphasizes the role of disturbed TGF-β signaling in LDS pathogenesis. Since most literature so far has focused on TGFBR1/2, we provide a comprehensive review on the known and some novel TGFB2/3 and SMAD2/3 mutations. For TGFB2 and SMAD3, the clinical manifestations, both of the patients previously described in the literature and our newly reported patients, are summarized in detail. This clearly indicates that LDS concerns a disorder with a broad phenotypical spectrum that is still emerging as more patients will be identified. All mutations described here are present in the corresponding Leiden Open Variant Database.

Original languageEnglish
JournalHuman Mutation
Volume39
Issue number5
Pages (from-to)621-634
Number of pages14
ISSN1059-7794
DOIs
Publication statusPublished - May 2018

ID: 56213547