Abstract
Meester-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.
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Abbreviations
- BGN:
-
Biglycan
- ECM:
-
Extracellular matrix
- GAG:
-
Glycosaminoglycan
- LDS:
-
Loeys-Dietz syndrome
- MFS:
-
Marfan syndrome
- MRLS:
-
Meester-Loeys syndrome
- NMD:
-
Nonsense mediated RNA decay
- SEMDX:
-
Spondylo-epi-metaphyseal dysplasia
- TAA:
-
Thoracic aortic aneurysm
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Meester, J.A.N., De Kinderen, P., Verstraeten, A., Loeys, B. (2021). Meester-Loeys Syndrome. In: Halper, J. (eds) Progress in Heritable Soft Connective Tissue Diseases. Advances in Experimental Medicine and Biology, vol 1348. Springer, Cham. https://doi.org/10.1007/978-3-030-80614-9_12
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DOI: https://doi.org/10.1007/978-3-030-80614-9_12
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