@article{10902/38742,
year = {2025},
url = {https://hdl.handle.net/10902/38742},
abstract = {Meester-Loeys syndrome (MLS) is an X-linked connective tissue disorder caused by pathogenic BGN variants. We describe a family carrying a novel missense variant. The index male, initially diagnosed with Ehlers-Danlos syndrome, had joint hypermobility, multiple visceral artery aneurysms, and recurrent musculoskeletal problems. A brother of the proband had an aortic root aneurysm. Female carriers had no or only minor manifestations. Studies of the aortic wall were consistent with a dysregulation of the TGF-?/SMAD pathway and assays with reporter vectors revealed reduced canonical Wnt and TGF-beta activity in cell lines expressing mutant biglycan. However, patients' dermal fibroblasts did not show consistent differences in the nuclear abundance of beta-catenin or p-SMAD2/3 compared to cells from controls. This 3-generation family expands the genetic and phenotypic spectrum of MLS and underscores the importance of considering BGN testing in hypermobility syndromes to enable early surveillance and targeted management.},
organization = {This work was supported by Instituto de Salud Carlos III (CIBER-CV CB16/11/00264; and
grant PI21/00084 (co-funded by Fondo Europeo de Desarrollo Regional (FEDER)) and by Instituto de
Investigación Sanitaria Marqués de Valdecilla (IDIVAL) (INNVAL 21/24) to J.F.N.},
publisher = {MDPI},
publisher = {International Journal of Molecular Sciences, 2025, 26(24), 12044},
title = {A family with Meester-Loeys syndrome caused by a novel missense variant in the BGN gene},
author = {Riancho Moral, José Antonio and Vega, Ana I. and Real Bolt, Álvaro del and Sañudo Campo, María Carolina and Pérez-Castrillón, José L. and García López, Raquel and Puente Ruiz, Nuria and Nistal Herrera, Juan Francisco and Fernández-Luna, José L.},
}