Meester-Loeys Syndrome

Adv Exp Med Biol. 2021;1348:265-272. doi: 10.1007/978-3-030-80614-9_12.ABSTRACTMeester-Loeys syndrome is an X-linked form of syndromic thoracic aortic aneurysm, characterized by the involvement of multiple organ systems. More specifically, the cardiovascular, skeletal, craniofacial, cutaneous and neurological systems are affected. Clear clinical overlap with Marfan syndrome and Loeys-Dietz syndrome is observed. Aortic dissections occur typically at young ages and are most often observed in males. Meester-Loeys syndrome is caused by loss-of-function mutations in BGN, encoding the small leucine-rich proteoglycan biglycan. Although functional consequences of these mutations remain largely elusive, increased TGF-β signaling has been observed. Novel insights will provide opportunities for preventive therapeutic interventions.PMID:34807424 | DOI:10.1007/978-3-030-80614-9_12

Source: Advances in Experimental Medicine and Biology - November 22, 2021 Category: Research Authors: Josephina A N Meester Pauline De Kinderen Aline Verstraeten Bart Loeys Source Type: research