Article
Novel LOX Variants in Five Families with Aortic/Arterial Aneurysm and Dissection with Variable Connective Tissue Findings.
International journal of molecular sciences - 1 Jul 2021
Van Gucht Ilse, Krebsova Alice, Diness Birgitte Rode, Laga Steven, Adlam Dave, Kempers Marlies, Samani Nilesh J, Webb Tom R, Baranowska Ania A, Van Den Heuvel Lotte, Perik Melanie, Luyckx Ilse, Peeters Nils, Votypka Pavel, Macek Milan, Meester Josephina, Van Laer Lut, Verstraeten Aline, Loeys Bart L
Abstract excerpt
Thoracic aortic aneurysm and dissection (TAAD) is a major cause of cardiovascular morbidity and mortality. Loss-of-function variants in LOX, encoding the extracellular matrix crosslinking enzyme lysyl oxidase, have been reported to cause familial TAAD. Using a next-generation TAAD gene panel, we identified five additional probands carrying LOX variants, including two missense variants affecting highly conserved...
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