This website provides information on patients with mutations in the BGN gene, including clinical data, molecular data, management and research options.

The syndrome caused by mutations in the BGN gene is now called Meester-Loeys syndrome (MLS). It is a multisystem disorder characterized by early-onset aortic aneurysm and dissection in male patients and mild mitral and aortic valve insufficiency.

The cardiovascular phenotype in mutation-carrying females ranges from unaffected upon repeated echocardiographic evaluation over aortic root dilatation to death due to aortic dissection. Other connective tissue features include: pectus deformities, joint hypermobility/contractures, striae, bifid uvula, hypertelorism, cervical spine instability, the stature ranges from short to normal to high normal, either long fingers or rather short, broad fingers, ventricular dilatation on brain imaging, hypertrichosis, gingival hypertrophy, relative macrocephaly, skeletal dysplasia with hip dislocation, platyspondyly, phalangeal dysplasia, and dysplastic epiphyses of the long bones. Not all individuals with a mutation in the BGN gene have these features.

This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the BGN gene.

Josephina Meester, Postdoctoral researcher, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium, josephina.meester@uantwerpen.be

Bart Loeys, Clinician, Principal Investigator, University of Antwerp/Antwerp University Hospital, Antwerp, Belgium, bart.loeys@uantwerpen.be