VASCERN News
23 July 2024
Revision of Rare Vascular Tumors in the Orphanet Database
A new scientific publication on arterial tortuosity syndrome has been published online (advance online publication) in Genetics of Medicine. The publication, entitled Arterial tortuosity syndrome: 40 new families and literature review, is co-authored by several VASCERN HCP representatives including Prof Julie De Backer (Chair of the HTAD-WG), Dr Sophie Dupuis-Girod (Co-Chair of the HHT-WG), Prof Xavier Jeunemaître (Co-chair of the MSA-WG) and Bart Loeys (member of the HTAD and MSA WGs).
Arterial tortuosity syndrome (ATS) is a very rare connective tissue disease characterized by elongation and tortuosity (twists) of the large and medium-sized arteries that can lead to the formation of aneurysms, dissection and ischemic events. It is caused by mutations in the SLC2A10 gene, which encodes the facilitative glucose transporter GLUT10. This article reviews the clinical picture of patients with this rare disease previously described in the literature and reports on the clinical and molecular findings of 40 newly identified families with ATS. It goes on to shed light on previously unknown features of this disease and confirms a better prognosis than initially reported (with proper follow-up and early recognition of complications).
To read the abstract and download the full article, click here.
Reference:
Genet Med. 2018 Jan 11. doi: 10.1038/gim.2017.253. [Epub ahead of print]
Arterial tortuosity syndrome: 40 new families and literature review.
Beyens A, Albuisson J, Boel A, Al-Essa M, Al-Manea W, Bonnet D, Bostan O, Boute O, Busa T, Canham N, Cil E, Coucke PJ, Cousin MA, Dasouki M, De Backer J1, De Paepe A, De Schepper S, De Silva D, Devriendt K, De Wandele I, Deyle DR, Dietz H, Dupuis-Girod S, Fontenot E, Fischer-Zirnsak B, Gezdirici A, Ghoumid J, Giuliano F, Diéz NB, Haider MZ, Hardin JS, Jeunemaitre X, Klee EW, Kornak U, Landecho MF, Legrand A, Loeys B, Lyonnet S, Michael H, Moceri P, Mohammed S, Muiño-Mosquera L, Nampoothiri S, Pichler K, Prescott K, Rajeb A, Ramos-Arroyo M, Rossi M, Salih M, Seidahmed MZ, Schaefer E, Steichen-Gersdorf E, Temel S, Uysal F, Vanhomwegen M, Van Laer L, Van Maldergem L, Warner D, Willaert A, Collins TR, Taylor A, Davis EC, Zarate Y, Callewaert B.