Publication
Title
A mutation update on the LDS-associated genes TGFB2/3 and SMAD2/3
Author
Abstract
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-beta (TGF-beta) receptors (TGFBR1 and TGFBR2) were described to cause LDS, hereby leading to impaired TGF-beta signaling. More recently, TGF-beta ligands, TGFB2 and TGFB3, as well as intracellular downstream effectors of the TGF-beta pathway, SMAD2 and SMAD3, were shown to be involved in LDS. This emphasizes the role of disturbed TGF-beta 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.
Language
English
Source (journal)
Human mutation. - New York, N.Y.
Publication
New York, N.Y. : 2018
ISSN
1059-7794
Volume/pages
39 :5 (2018) , p. 621-634
ISI
000433600000002
Pubmed ID
29392890
Full text (Publisher's DOI)
Full text (open access)
UAntwerpen
Faculty/Department
Research group
Project info
Bicuspid Related Aortopathy, a Vibrant Exploration (BRAVE).
Towards a better understanding of the molecular mechanisms underlying thoracic aortic aneurysms and dissections.
Publication type
Subject
Affiliation
Publications with a UAntwerp address
External links
Web of Science
Record
Identification
Creation 10.07.2018
Last edited 20.09.2021
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