Interpretation and classification of FBN1 variants associated with Marfan syndrome: consensus recommendations from the Clinical Genome Resource's FBN1 variant curation expert panel.

Background: In 2015, the American College of Medical Genetics and Genomics (ACMG) and the Association for Molecular Pathology (AMP) developed standardized variant curation guidelines for Mendelian disorders. Although these guidelines have been widely adopted, they are not gene- or disease-specific. To mitigate classification discrepancies, the Clinical Genome Resource FBN1 variant curation expert panel (VCEP) was established in 2018 to develop adaptations to the ACMG/AMP criteria for FBN1 in association with Marfan syndrome.

Inflammasome regulation by the cell surface ecto-5'-nucleotidase of the oral commensal, Streptococcus oralis.

Streptococcus oralis is a commensal oral bacterium that acts as an opportunistic pathogen, causing systemic diseases, such as infective endocarditis and aspiration pneumonia. However, the specific molecular mechanisms underlying its transition from commensal to pathogenic state remain unclear. In this study, to further elucidate the mechanisms underlying virulence expression, we identified and characterized the cell surface-associated ecto-5'-nucleotidase (Nt5e) in S.

Variations in echocardiographic findings in patients with Loeys-Dietz syndrome type 4 with 2 types of variant mutations in TGFB.

Unlabelled: Loeys-Dietz syndrome (LDS) type 4 is a rare connective tissue disorder caused by mutations in the transforming growth factor β 2 gene. It is well-documented that LDS4 shares clinical features of Marfan syndrome (MFS), and vascular involvement is less significant compared to other types of LDS. However, information on the valvular characteristics is scarce due to the small number of reported cases.