Williams-Beuren syndrome (WBS) is a multisystem
genetic disease caused by the deletion of a region of 1.5-1.8 Mb on chromosome 7q11.23. The
elastin gene seems to account for several comorbidities and distinct clinical features such including
cardiovascular disease, connective tissue abnormalities, growth retardation, and gastrointestinal (GI) symptoms. Increasing evidence points to alterations in gut microbiota composition as a primary or secondary cause of some GI or extra-intestinal characteristics. In this study, we performed the first exploratory analysis of gut microbiota in WBS patients compared to healthy subjects (CTRLs) using
16S rRNA amplicon sequencing, by investigating the gut
dysbiosis in relation to diseases and comorbidities. We found that patients with WBS have significant
dysbiosis compared to age-matched CTRLs, characterized by an increase in proinflammatory bacteria such as Pseudomonas, Gluconacetobacter and Eggerthella, and a reduction of anti-inflammatory bacteria including Akkermansia and Bifidobacterium. Microbial
biomarkers associated with
weight gain, GI symptoms and
hypertension were identified. Gut microbiota profiling could represent a new tool that characterise intestinal
dysbiosis to
complement the clinical management of these patients. In particular, the administration of microbial-based treatments, alongside traditional
therapies, could help in reducing or preventing the burden of these symptoms and improve the quality of life of these patients.