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ea0084op-01-04 | Oral Session 1: Topic Highlights | ETA2022

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

Schoenmakers Erik , Marelli Federica , Jorgensen Helle , Edward Visser W. , Moran Carla , Groeneweg Stefan , Avalos Carolina , Figg Nichola , Finigan Alison , Wali Neha , Agostini Maura , Wardle-Jones Hannah , Lyons Greta , Rusk Rosemary , Gopalan Deepa , Johannes Visser Jacob , Goddard Martin , Nashef Samer , Heijmen Robin , Clift Paul , Sinha Sanjay , Busch-Nentwich Elisabeth , Ramirez-Solis Ramiro , Persani Luca , Bennett Martin , Chatterjee Krishna

Objectives: Mutations in SECISBP2 cause deficiency of selenoproteins, resulting in a multisystem disorder with abnormal circulating thyroid hormone and selenium levels and features due to lack of specific selenoproteins or loss of antioxidant selenoenzymes. Having observed early-onset, aneurysmal thoracic aortic dilatation in four patients with this disorder, we studied zebrafish and murine Secisbp2 mutant models to determine whether the aortic phenotype and selenopro...

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Endocrine Abstracts

Selenoprotein deficiency disorder predisposes to aortic aneurysm formation

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